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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980428copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,711-43,424,322 , GRCh38.p12 chr1: 42,927,040-42,958,651 SLC2A1-DT, SLC2A1
    nsv5673174copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,692-43,870,241 , GRCh38.p12 chr1: 42,927,021-43,404,570 TMEM125, RNA5SP46, 19 more genes
    nsv5564407copy number variation1nstd102humanUncertain significance GRCh37 chr1: 43,392,692-43,424,342 , GRCh38.p12 chr1: 42,927,021-42,958,671 SLC2A1-DT, SLC2A1
    nsv5416074copy number variation1nstd206human GRCh38 chr1: 42,957,935-42,958,274 , GRCh37.p13 chr1: 43,423,606-43,423,945 SLC2A1, SLC2A1-DT
    nsv5351476translocation1nstd200human GRCh38 chr1: 42,980,592-42,980,592 , GRCh38 chr1: 42,987,601-42,987,601 , GRCh37.p13 chr1: 43,453,272-43,453,272 , GRCh37.p13 chr1: 43,446,263-43,446,263 SLC2A1-DT
    nsv5285837copy number variation1nstd204human GRCh38.p13 chr1: 42,964,803-42,971,855 , GRCh37.p13 chr1: 43,430,474-43,437,526 SLC2A1-DT
    nsv5214924copy number variation1nstd204human GRCh38.p13 chr1: 42,964,858-42,971,806 , GRCh37.p13 chr1: 43,430,529-43,437,477 SLC2A1-DT
    nsv4903408copy number variation1nstd200human GRCh38 chr1: 42,967,587-43,008,599 , GRCh37.p13 chr1: 43,433,258-43,474,270 SLC2A1-DT, RNU6-880P
    nsv4773269copy number variation1nstd200human GRCh37 chr1: 43,446,263-43,453,272 , GRCh38.p12 chr1: 42,980,592-42,987,601 SLC2A1-DT
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4682186copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 43,424,285-43,424,342 , GRCh38.p12 chr1: 42,958,614-42,958,671 SLC2A1-DT, SLC2A1
    nsv4461164mobile element insertion1nstd166human GRCh37.p13 chr1: 43,433,929-43,433,929 , GRCh38.p12 chr1: 42,968,258-42,968,258 SLC2A1-DT
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4047602copy number variation1nstd166human GRCh37.p13 chr1: 43,439,209-43,439,330 , GRCh38.p12 chr1: 42,973,538-42,973,659 SLC2A1-DT
    nsv4044021copy number variation1nstd166human GRCh37.p13 chr1: 43,444,062-43,448,036 , GRCh38.p12 chr1: 42,978,391-42,982,365 SLC2A1-DT
    nsv3908884copy number variation1nstd102humanPathogenic GRCh37 chr1: 41,300,076-43,588,742 , GRCh38 chr1: 40,834,404-43,123,071 , NCBI36 chr1: 41,072,663-43,361,329 PPCS, ZNF691, 46 more genes
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