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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5882651copy number variation1nstd209human GRCh38 chr1: 224,186,703-224,187,297 , GRCh37.p13 chr1: 224,374,405-224,374,999 DEGS1
    nsv5557460sequence alteration1nstd206human GRCh38 chr1: 224,181,181-224,198,585 , GRCh37.p13 chr1: 224,368,883-224,386,287 DEGS1
    nsv5440814copy number variation1nstd206human GRCh38 chr1: 224,188,297-224,188,347 , GRCh37.p13 chr1: 224,375,999-224,376,049 DEGS1
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5209536copy number variation1nstd204human GRCh38.p13 chr1: 224,138,801-224,205,400 , GRCh37.p13 chr1: 224,326,503-224,393,102 FBXO28, LOC724084, 1 more genes
    nsv5205580copy number variation1nstd204human GRCh38.p13 chr1: 224,153,058-224,181,672 , GRCh37.p13 chr1: 224,340,760-224,369,374 FBXO28, DEGS1, 1 more genes
    nsv5200338copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,552,998-224,761,890 , GRCh38.p12 chr1: 223,379,656-224,574,188 LOC105373025, CAPN2, 32 more genes
    nsv4904391copy number variation1nstd200human GRCh38 chr1: 224,154,643-224,264,004 , GRCh37.p13 chr1: 224,342,345-224,451,706 FBXO28, NVL, 5 more genes
    nsv4781472copy number variation1nstd200human GRCh37 chr1: 224,342,345-224,451,706 , GRCh38.p12 chr1: 224,154,643-224,264,004 DEGS1, FBXO28, 5 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728176copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,605,125-224,696,628 , GRCh38.p12 chr1: 222,431,783-224,508,926 SEPTIN7P13, LOC101927164, 52 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674157copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,641,389-228,137,574 , GRCh38.p12 chr1: 222,468,047-227,949,873 SRP9, AKR1B1P1, 123 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4454119copy number variation1nstd102humanUncertain significance GRCh37 chr1: 224,333,044-224,384,942 , GRCh38.p12 chr1: 224,145,342-224,197,240 LOC724084, DEGS1, 1 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
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