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Items: 1 to 20 of 101

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5621433insertion1nstd207human GRCh38 chr1: 152,910,325-152,910,325 , GRCh37.p13 chr1: 152,882,801-152,882,801 IVL
    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
    nsv4903881copy number variation1nstd200human GRCh38 chr1: 152,873,366-152,998,846 , GRCh37.p13 chr1: 152,845,842-152,971,322 SMCP, SPRR4, 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
    nsv4767670insertion1nstd199human GRCh37 chr1: 152,882,835-152,882,835 , GRCh38.p12 chr1: 152,910,359-152,910,359 IVL
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4708287copy number variation1nstd195human GRCh38.p12 chr1: 152,836,175-152,936,925 , GRCh37 chr1: 152,808,651-152,909,401 IVL, SMCP, 4 more genes
    nsv4579211copy number variation1nstd183human GRCh37 chr1: 152,883,675-152,884,568 , GRCh38.p12 chr1: 152,911,199-152,912,092 IVL
    nsv4518402copy number variation1nstd166human GRCh37.p13 chr1: 152,648,171-153,289,950 , GRCh38.p12 chr1: 152,675,695-153,317,474 SPRR2D, SMCP, 36 more genes
    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
    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
    nsv3319978insertion2nstd162human GRCh38 chr1: 152,910,506-152,910,506 , GRCh37.p13 chr1: 152,882,982-152,882,982 IVL
    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
    nsv3131000copy number variation1nstd151human GRCh37 chr1: 152,770,268-153,617,750 , GRCh38.p12 chr1: 152,797,792-153,645,274 S100A4, SPRR2B, 50 more genes
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