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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099298copy number variation1nstd231human GRCh38.p12 chr1: 68,115,402-81,183,740 , GRCh37 chr1: 68,581,085-81,649,425 ACADM, COX6A1P1, 145 more genes
    nsv7099210copy number variation1nstd231human GRCh38.p12 chr1: 66,256,800-84,953,993 , GRCh37 chr1: 66,722,483-85,419,676 ACADM, COX6A1P1, 211 more genes
    nsv7055498inversion1nstd229human GRCh38 chr1: 66,514,766-73,182,042 , GRCh37.p13 chr1: 66,980,449-73,647,725 LINC02796, LOC105378789, 80 more genes
    nsv6654314copy number variation1nstd229human GRCh38 chr1: 72,428,201-72,798,600 , GRCh37.p13 chr1: 72,893,884-73,264,283 LOC105378796, LINC02796, 3 more genes
    nsv6654262copy number variation1nstd229human GRCh38 chr1: 72,717,254-72,720,306 , GRCh37.p13 chr1: 73,182,937-73,185,989 RNU6-1246P, LOC105378798
    nsv6654259copy number variation1nstd229human GRCh38 chr1: 72,622,549-72,728,627 , GRCh37.p13 chr1: 73,088,232-73,194,310 RNU6-1246P, LOC105378798, 1 more genes
    nsv6654111copy number variation1nstd229human GRCh38 chr1: 72,619,236-73,102,692 , GRCh37.p13 chr1: 73,084,919-73,568,375 LINC02796, LOC105378797, 3 more genes
    nsv6653585copy number variation1nstd229human GRCh38 chr1: 72,699,701-72,753,600 , GRCh37.p13 chr1: 73,165,384-73,219,283 RNU6-1246P, LOC105378798
    nsv6332820copy number variation1nstd223human GRCh38 chr1: 72,716,542-72,717,275 , GRCh37.p13 chr1: 73,182,225-73,182,958 RNU6-1246P, LOC105378798
    nsv6318738copy number variation1nstd223human GRCh38 chr1: 72,717,248-72,720,305 , GRCh37.p13 chr1: 73,182,931-73,185,988 LOC105378798, RNU6-1246P
    nsv6315306copy number variation1nstd102humanUncertain significance GRCh38 chr1: 66,885,559-77,949,895 , GRCh37.p13 chr1: 67,351,242-78,415,580 DNAJB6P4, LRRC7, 137 more genes
    nsv6313574copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400 RNA5SP51, ADGRL4, 315 more genes
    nsv6133878copy number variation1nstd213human GRCh37 chr1: 73,070,000-73,940,001 , GRCh38.p12 chr1: 72,604,317-73,474,318 KRT8P21, LINC02796, 8 more genes
    nsv5209943copy number variation1nstd204human GRCh38.p13 chr1: 72,717,901-72,724,300 , GRCh37.p13 chr1: 73,183,584-73,189,983 LOC105378798, RNU6-1246P
    nsv4896281copy number variation1nstd200human GRCh38 chr1: 72,703,084-72,715,795 , GRCh37.p13 chr1: 73,168,767-73,181,478 LOC105378798, RNU6-1246P
    nsv4896268copy number variation1nstd200human GRCh38 chr1: 72,428,224-72,798,585 , GRCh37.p13 chr1: 72,893,907-73,264,268 LOC105378796, LOC105378797, 3 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783707copy number variation1nstd200human GRCh37 chr1: 73,168,767-73,181,478 , GRCh38.p12 chr1: 72,703,084-72,715,795 RNU6-1246P, LOC105378798
    nsv4783699copy number variation1nstd200human GRCh37 chr1: 72,893,907-73,264,268 , GRCh38.p12 chr1: 72,428,224-72,798,585 LOC105378796, RNU6-1246P, 3 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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