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Items: 1 to 20 of 1729

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6123528copy number variation1nstd186human GRCh37 chr19: 54,569,754-54,569,921 , GRCh38.p12 chr19: 54,066,500-54,066,667 , GRCh38.p12 chr19|NT_187693.1: 40,867-41,034 , GRCh38.p12 chr19|NW_003571055.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571058.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571056.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571054.1: 40,867-41,034 , GRCh38.p12 chr19|NW_003571061.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571059.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571057.2: 40,867-41,034 , GRCh38.p12 chr19|NW_003571060.1: 40,867-41,034 0
    nsv5393270copy number variation1nstd186human GRCh37 chr19: 55,475,725-55,476,986 , GRCh38.p12 chr19: 54,964,357-54,965,618 , GRCh38.p12 chr19|NT_187693.1: 946,839-948,100 , GRCh38.p12 chr19|NW_003571061.2: 676,518-677,779 , GRCh38.p12 chr19|NW_003571057.2: 971,880-973,141 , GRCh38.p12 chr19|NW_003571058.2: 946,429-947,690 , GRCh38.p12 chr19|NW_003571059.2: 882,722-883,983 , GRCh38.p12 chr19|NW_003571056.2: 944,343-945,604 , GRCh38.p12 chr19|NW_003571055.2: 609,559-610,820 , GRCh38.p12 chr19|NW_003571054.1: 867,755-869,016 NLRP7, NLRP2
    nsv5393213copy number variation1nstd186human GRCh37 chr19: 54,637,200-54,637,760 , GRCh38.p12 chr19|NW_003571060.1: 108,313-108,873 , GRCh38.p12 chr19|NT_187693.1: 108,313-108,873 , GRCh38.p12 chr19|NW_003571058.2: 108,313-108,873 , GRCh38.p12 chr19|NW_003571056.2: 108,313-108,873 , GRCh38.p12 chr19|NW_003571055.2: 108,313-108,873 , GRCh38.p12 chr19|NW_003571057.2: 108,313-108,873 , GRCh38.p12 chr19|NW_003571054.1: 108,313-108,873 , GRCh38.p12 chr19|NW_003571061.2: 108,313-108,873 , GRCh38.p12 chr19|NW_003571059.2: 108,313-108,873 0
    nsv5393136copy number variation1nstd186human GRCh37 chr19: 55,466,569-55,468,029 , GRCh38.p12 chr19|NW_003571061.2: 667,362-668,822 , GRCh38.p12 chr19|NW_003571057.2: 962,724-964,184 , GRCh38.p12 chr19|NW_003571058.2: 937,273-938,733 , GRCh38.p12 chr19|NW_003571060.1: 859,039-860,499 , GRCh38.p12 chr19|NW_003571055.2: 600,403-601,863 , GRCh38.p12 chr19: 54,955,201-54,956,661 , GRCh38.p12 chr19|NT_187693.1: 937,683-939,143 , GRCh38.p12 chr19|NW_003571054.1: 858,599-860,059 , GRCh38.p12 chr19|NW_003571059.2: 873,566-875,026 , GRCh38.p12 chr19|NW_003571056.2: 935,187-936,647 NLRP7
    nsv5392383copy number variation1nstd186human GRCh37 chr19: 55,544,449-55,544,839 , GRCh38.p12 chr19: 55,033,081-55,033,471 , GRCh38.p12 chr19|NT_187693.1: 1,015,563-1,015,953 , GRCh38.p12 chr19|NW_003571061.2: 745,242-745,632 , GRCh38.p12 chr19|NW_003571057.2: 1,040,604-1,040,994 , GRCh38.p12 chr19|NW_003571058.2: 1,015,153-1,015,543 , GRCh38.p12 chr19|NW_003571059.2: 951,446-951,836 , GRCh38.p12 chr19|NW_003571060.1: 935,863-936,253 , GRCh38.p12 chr19|NW_003571056.2: 1,013,067-1,013,457 , GRCh38.p12 chr19|NW_003571055.2: 678,283-678,673 , GRCh38.p12 chr19|NW_003571054.1: 936,479-936,869 GP6, GP6-AS1
    nsv5392218copy number variation1nstd186human GRCh37 chr19: 55,530,548-55,531,224 , GRCh38.p12 chr19: 55,019,180-55,019,856 , GRCh38.p12 chr19|NT_187693.1: 1,001,662-1,002,338 , GRCh38.p12 chr19|NW_003571061.2: 731,341-732,017 , GRCh38.p12 chr19|NW_003571057.2: 1,026,703-1,027,379 , GRCh38.p12 chr19|NW_003571058.2: 1,001,252-1,001,928 , GRCh38.p12 chr19|NW_003571059.2: 937,545-938,221 , GRCh38.p12 chr19|NW_003571060.1: 921,962-922,638 , GRCh38.p12 chr19|NW_003571056.2: 999,166-999,842 , GRCh38.p12 chr19|NW_003571055.2: 664,382-665,058 , GRCh38.p12 chr19|NW_003571054.1: 922,578-923,254 GP6, GP6-AS1
    nsv5392133copy number variation1nstd186human GRCh37 chr19: 55,576,126-55,577,125 , GRCh38.p12 chr19|NT_187693.1: 1,047,240-1,048,239 , GRCh38.p12 chr19|NW_003571060.1: 967,540-968,539 , GRCh38.p12 chr19|NW_003571057.2: 1,072,281-1,073,280 , GRCh38.p12 chr19|NW_003571059.2: 983,123-984,122 , GRCh38.p12 chr19: 55,064,758-55,065,757 , GRCh38.p12 chr19|NW_003571061.2: 776,919-777,918 , GRCh38.p12 chr19|NW_003571056.2: 1,044,744-1,045,743 , GRCh38.p12 chr19|NW_003571055.2: 709,960-710,959 , GRCh38.p12 chr19|NW_003571058.2: 1,046,830-1,047,829 , GRCh38.p12 chr19|NW_003571054.1: 968,156-969,155 RDH13
    nsv5391379copy number variation1nstd186human GRCh37 chr19: 55,465,387-55,465,586 , GRCh38.p12 chr19|NT_187693.1: 936,501-936,700 , GRCh38.p12 chr19|NW_003571061.2: 666,180-666,379 , GRCh38.p12 chr19|NW_003571059.2: 872,384-872,583 , GRCh38.p12 chr19|NW_003571055.2: 599,221-599,420 , GRCh38.p12 chr19: 54,954,019-54,954,218 , GRCh38.p12 chr19|NW_003571056.2: 934,005-934,204 , GRCh38.p12 chr19|NW_003571057.2: 961,542-961,741 , GRCh38.p12 chr19|NW_003571058.2: 936,091-936,290 , GRCh38.p12 chr19|NW_003571054.1: 857,417-857,616 NLRP7
    nsv5390946copy number variation1nstd186human GRCh37 chr19: 55,544,214-55,544,839 , GRCh38.p12 chr19: 55,032,846-55,033,471 , GRCh38.p12 chr19|NT_187693.1: 1,015,328-1,015,953 , GRCh38.p12 chr19|NW_003571061.2: 745,007-745,632 , GRCh38.p12 chr19|NW_003571057.2: 1,040,369-1,040,994 , GRCh38.p12 chr19|NW_003571058.2: 1,014,918-1,015,543 , GRCh38.p12 chr19|NW_003571059.2: 951,211-951,836 , GRCh38.p12 chr19|NW_003571060.1: 935,628-936,253 , GRCh38.p12 chr19|NW_003571056.2: 1,012,832-1,013,457 , GRCh38.p12 chr19|NW_003571055.2: 678,048-678,673 , GRCh38.p12 chr19|NW_003571054.1: 936,244-936,869 GP6, GP6-AS1
    nsv5390218copy number variation1nstd186human GRCh37 chr19: 55,486,662-55,486,927 , GRCh38.p12 chr19: 54,975,294-54,975,559 , GRCh38.p12 chr19|NT_187693.1: 957,776-958,041 , GRCh38.p12 chr19|NW_003571059.2: 893,659-893,924 , GRCh38.p12 chr19|NW_003571057.2: 982,817-983,082 , GRCh38.p12 chr19|NW_003571058.2: 957,366-957,631 , GRCh38.p12 chr19|NW_003571054.1: 878,692-878,957 , GRCh38.p12 chr19|NW_003571061.2: 687,455-687,720 , GRCh38.p12 chr19|NW_003571060.1: 878,036-878,300 , GRCh38.p12 chr19|NW_003571056.2: 955,280-955,545 , GRCh38.p12 chr19|NW_003571055.2: 620,496-620,761 NLRP2
    nsv5389823copy number variation1nstd186human GRCh37 chr19: 55,589,833-55,590,238 , GRCh38.p12 chr19: 55,078,465-55,078,870 , GRCh38.p12 chr19|NT_187693.1: 1,060,947-1,061,352 , GRCh38.p12 chr19|NW_003571060.1: 981,247-981,652 , GRCh38.p12 chr19|NW_003571057.2: 1,085,988-1,086,393 , GRCh38.p12 chr19|NW_003571054.1: 981,863-982,268 , GRCh38.p12 chr19|NW_003571061.2: 790,626-791,031 , GRCh38.p12 chr19|NW_003571059.2: 996,830-997,235 , GRCh38.p12 chr19|NW_003571056.2: 1,058,451-1,058,856 , GRCh38.p12 chr19|NW_003571055.2: 723,667-724,072 , GRCh38.p12 chr19|NW_003571058.2: 1,060,537-1,060,942 EPS8L1
    nsv5389624copy number variation1nstd186human GRCh37 chr19: 55,465,392-55,465,896 , GRCh38.p12 chr19|NT_187693.1: 936,506-937,010 , GRCh38.p12 chr19|NW_003571054.1: 857,422-857,926 , GRCh38.p12 chr19|NW_003571059.2: 872,389-872,893 , GRCh38.p12 chr19|NW_003571056.2: 934,010-934,514 , GRCh38.p12 chr19|NW_003571055.2: 599,226-599,730 , GRCh38.p12 chr19|NW_003571061.2: 666,185-666,689 , GRCh38.p12 chr19|NW_003571057.2: 961,547-962,051 , GRCh38.p12 chr19|NW_003571058.2: 936,096-936,600 , GRCh38.p12 chr19: 54,954,024-54,954,528 NLRP7
    nsv5383780mobile element deletion1nstd186human GRCh37 chr19: 55,465,586-55,465,897 , GRCh38.p12 chr19|NW_003571061.2: 666,379-666,690 , GRCh38.p12 chr19|NW_003571057.2: 961,741-962,052 , GRCh38.p12 chr19|NW_003571058.2: 936,290-936,601 , GRCh38.p12 chr19: 54,954,218-54,954,529 , GRCh38.p12 chr19|NT_187693.1: 936,700-937,011 , GRCh38.p12 chr19|NW_003571054.1: 857,616-857,927 , GRCh38.p12 chr19|NW_003571059.2: 872,583-872,894 , GRCh38.p12 chr19|NW_003571056.2: 934,204-934,515 , GRCh38.p12 chr19|NW_003571055.2: 599,420-599,731 NLRP7
    nsv5342968translocation1nstd200human GRCh37 chr19: 55,574,007-55,574,007 , GRCh37 chr19: 55,573,146-55,573,146 , GRCh38.p12 chr19|NW_003571061.2: 774,800-774,800 , GRCh38.p12 chr19|NW_003571057.2: 1,069,301-1,069,301 , GRCh38.p12 chr19|NW_003571059.2: 981,004-981,004 , GRCh38.p12 chr19|NW_003571056.2: 1,042,625-1,042,625 , GRCh38.p12 chr19|NW_003571055.2: 707,841-707,841 , GRCh38.p12 chr19: 55,062,639-55,062,639 , GRCh38.p12 chr19|NW_003571061.2: 773,939-773,939 , GRCh38.p12 chr19|NW_003571059.2: 980,143-980,143 , GRCh38.p12 chr19|NW_003571060.1: 965,421-965,421 , GRCh38.p12 chr19|NW_003571056.2: 1,041,764-1,041,764 , GRCh38.p12 chr19|NW_003571055.2: 706,980-706,980 , GRCh38.p12 chr19|NW_003571057.2: 1,070,162-1,070,162 , GRCh38.p12 chr19|NW_003571058.2: 1,043,850-1,043,850 , GRCh38.p12 chr19|NW_003571058.2: 1,044,711-1,044,711 , GRCh38.p12 chr19|NW_003571054.1: 965,176-965,176 , GRCh38.p12 chr19: 55,061,778-55,061,778 , GRCh38.p12 chr19|NT_187693.1: 1,044,260-1,044,260 , GRCh38.p12 chr19|NT_187693.1: 1,045,121-1,045,121 , GRCh38.p12 chr19|NW_003571060.1: 964,560-964,560 , GRCh38.p12 chr19|NW_003571054.1: 966,037-966,037 RDH13
    nsv5333830translocation1nstd200human GRCh37 chr19: 55,428,124-55,428,124 , GRCh37 chr19: 55,428,072-55,428,072 , GRCh38.p12 chr19: 54,916,756-54,916,756 , GRCh38.p12 chr19|NW_003571058.2: 898,828-898,828 , GRCh38.p12 chr19|NW_003571059.2: 835,069-835,069 , GRCh38.p12 chr19|NW_003571054.1: 820,154-820,154 , GRCh38.p12 chr19: 54,916,704-54,916,704 , GRCh38.p12 chr19|NT_187693.1: 899,186-899,186 , GRCh38.p12 chr19|NW_003571061.2: 628,917-628,917 , GRCh38.p12 chr19|NW_003571056.2: 896,742-896,742 , GRCh38.p12 chr19|NW_003571061.2: 628,865-628,865 , GRCh38.p12 chr19|NW_003571057.2: 924,279-924,279 , GRCh38.p12 chr19|NW_003571059.2: 835,121-835,121 , GRCh38.p12 chr19|NW_003571060.1: 821,054-821,054 , GRCh38.p12 chr19|NW_003571056.2: 896,690-896,690 , GRCh38.p12 chr19|NW_003571055.2: 561,912-561,912 , GRCh38.p12 chr19|NT_187693.1: 899,238-899,238 , GRCh38.p12 chr19|NW_003571057.2: 924,227-924,227 , GRCh38.p12 chr19|NW_003571058.2: 898,776-898,776 , GRCh38.p12 chr19|NW_003571060.1: 821,106-821,106 , GRCh38.p12 chr19|NW_003571055.2: 561,964-561,964 , GRCh38.p12 chr19|NW_003571054.1: 820,102-820,102 NCR1
    nsv5331229translocation1nstd200human GRCh37 chr19: 54,719,526-54,719,526 , GRCh37 chr19: 55,179,276-55,179,276 , GRCh38.p12 chr19|NW_003571061.2: 394,329-394,329 , GRCh38.p12 chr19|NW_003571060.1: 190,643-190,643 , GRCh38.p12 chr19|NW_003571060.1: 572,707-572,707 , GRCh38.p12 chr19|NW_003571054.1: 574,228-574,228 , GRCh38.p12 chr19: 54,215,657-54,215,657 , GRCh38.p12 chr19|NW_003571058.2: 190,640-190,640 , GRCh38.p12 chr19|NW_003571056.2: 190,640-190,640 , GRCh38.p12 chr19|NW_003571054.1: 190,457-190,457 , GRCh38.p12 chr19: 54,667,825-54,667,825 , GRCh38.p12 chr19|NT_187693.1: 190,640-190,640 , GRCh38.p12 chr19|NT_187693.1: 650,390-650,390 , GRCh38.p12 chr19|NW_003571057.2: 190,640-190,640 , GRCh38.p12 chr19|NW_003571061.2: 190,640-190,640 , GRCh38.p12 chr19|NW_003571059.2: 190,640-190,640 , GRCh38.p12 chr19|NW_003571055.2: 190,640-190,640 , LOC112268336, 8 more genes
    nsv4884087inversion1nstd200human GRCh37 chr19: 54,593,850-54,594,103 , GRCh38.p12 chr19: 54,090,577-54,090,830 , GRCh38.p12 chr19|NW_003571057.2: 64,963-65,216 , GRCh38.p12 chr19|NW_003571060.1: 64,963-65,216 , GRCh38.p12 chr19|NW_003571059.2: 64,963-65,216 , GRCh38.p12 chr19|NT_187693.1: 64,963-65,216 , GRCh38.p12 chr19|NW_003571058.2: 64,963-65,216 , GRCh38.p12 chr19|NW_003571056.2: 64,963-65,216 , GRCh38.p12 chr19|NW_003571055.2: 64,963-65,216 , GRCh38.p12 chr19|NW_003571054.1: 64,963-65,216 , GRCh38.p12 chr19|NW_003571061.2: 64,963-65,216 0
    nsv4865343copy number variation1nstd200human GRCh37 chr19: 55,552,242-55,557,260 , GRCh38.p12 chr19|NW_003571058.2: 1,022,946-1,027,964 , GRCh38.p12 chr19|NW_003571054.1: 944,272-949,290 , GRCh38.p12 chr19: 55,040,874-55,045,892 , GRCh38.p12 chr19|NW_003571061.2: 753,035-758,053 , GRCh38.p12 chr19|NW_003571056.2: 1,020,860-1,025,878 , GRCh38.p12 chr19|NT_187693.1: 1,023,356-1,028,374 , GRCh38.p12 chr19|NW_003571057.2: 1,048,397-1,053,415 , GRCh38.p12 chr19|NW_003571060.1: 943,656-948,674 , GRCh38.p12 chr19|NW_003571055.2: 686,076-691,094 , GRCh38.p12 chr19|NW_003571059.2: 959,239-964,257 RDH13, GP6-AS1
    nsv4865342copy number variation1nstd200human GRCh37 chr19: 55,544,446-55,544,842 , GRCh38.p12 chr19|NW_003571057.2: 1,040,601-1,040,997 , GRCh38.p12 chr19|NW_003571055.2: 678,280-678,676 , GRCh38.p12 chr19: 55,033,078-55,033,474 , GRCh38.p12 chr19|NW_003571056.2: 1,013,064-1,013,460 , GRCh38.p12 chr19|NW_003571061.2: 745,239-745,635 , GRCh38.p12 chr19|NW_003571060.1: 935,860-936,256 , GRCh38.p12 chr19|NT_187693.1: 1,015,560-1,015,956 , GRCh38.p12 chr19|NW_003571058.2: 1,015,150-1,015,546 , GRCh38.p12 chr19|NW_003571059.2: 951,443-951,839 , GRCh38.p12 chr19|NW_003571054.1: 936,476-936,872 GP6-AS1, GP6
    nsv4865341copy number variation1nstd200human GRCh37 chr19: 55,544,211-55,544,848 , GRCh38.p12 chr19|NW_003571059.2: 951,208-951,845 , GRCh38.p12 chr19: 55,032,843-55,033,480 , GRCh38.p12 chr19|NT_187693.1: 1,015,325-1,015,962 , GRCh38.p12 chr19|NW_003571060.1: 935,625-936,262 , GRCh38.p12 chr19|NW_003571056.2: 1,012,829-1,013,466 , GRCh38.p12 chr19|NW_003571058.2: 1,014,915-1,015,552 , GRCh38.p12 chr19|NW_003571054.1: 936,241-936,878 , GRCh38.p12 chr19|NW_003571061.2: 745,004-745,641 , GRCh38.p12 chr19|NW_003571057.2: 1,040,366-1,041,003 , GRCh38.p12 chr19|NW_003571055.2: 678,045-678,682 GP6, GP6-AS1
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