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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    nsv4711935copy number variation1nstd195human GRCh37 chr1: 151,624,751-152,167,951 , GRCh38.p12 chr1: 151,652,275-152,195,475 , S100A11, 28 more genes
    nsv4674246copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,798,754-152,306,536 , GRCh38.p12 chr1: 151,826,278-152,334,060 LOC105371442, PUDPP2, 18 more genes
    nsv4579451copy number variation1nstd183human GRCh37 chr1: 151,817,998-152,225,041 , GRCh38.p12 chr1: 151,845,522-152,252,565 , LOC105371442, 16 more genes
    nsv4454021copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,850,071-152,295,520 , GRCh38.p12 chr1: 151,877,595-152,323,044 HRNR, S100A11, 14 more genes
    nsv4407319copy number variation1nstd174human GRCh37 chr1: 151,832,796-152,236,760 , GRCh38.p12 chr1: 151,860,320-152,264,284 , KRT8P28, 14 more genes
    nsv4053325copy number variation1nstd166human GRCh37.p13 chr1: 151,947,991-151,964,389 , GRCh38.p12 chr1: 151,975,515-151,991,913 , S100A10
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3898965copy number variation1nstd102humanUncertain significance NCBI36 chr1: 150,097,631-150,537,674 , GRCh37 chr1: 151,831,007-152,271,050 , GRCh38 chr1: 151,858,531-152,298,574 HRNR, S100A11, 12 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877540copy number variation1nstd102humanPathogenic GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310 LCE1F, SPRR2G, 197 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv3132332copy number variation1nstd151human GRCh37 chr1: 151,798,403-152,287,937 , GRCh38.p12 chr1: 151,825,927-152,315,461 , C2CD4D, 20 more genes
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