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Items: 1 to 20 of 111

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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
    nsv4903861copy number variation1nstd200human GRCh38 chr1: 152,128,493-152,498,366 , GRCh37.p13 chr1: 152,100,969-152,470,842 , RPTN, 6 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
    nsv4711012copy number variation1nstd195human GRCh37 chr1: 152,375,901-152,403,901 , GRCh38.p12 chr1: 152,403,425-152,431,425 CRNN, HMGN3P1
    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
    nsv3897810copy number variation1nstd102humanUncertain significance GRCh37 chr1: 152,240,186-152,409,311 , NCBI36 chr1: 150,506,810-150,675,935 , GRCh38 chr1: 152,267,710-152,436,835 FLG2, HMGN3P1, 3 more genes
    nsv3890671copy number variation1nstd102humanLikely benign NCBI36 chr1: 150,604,399-150,857,144 , GRCh37 chr1: 152,337,775-152,590,520 , GRCh38 chr1: 152,365,299-152,618,044 CRNN, LCE3E, 7 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
    nsv3883360copy number variation1nstd102humanUncertain significance GRCh37 chr1: 152,250,211-152,409,311 , GRCh38.p12 chr1: 152,277,735-152,436,835 FLG2, FLG, 3 more genes
    nsv3881114copy number variation1nstd102humanUncertain significance GRCh37 chr1: 152,250,211-152,402,521 , GRCh38.p12 chr1: 152,277,735-152,430,045 FLG2, FLG-AS1, 3 more genes
    nsv3879897copy number variation1nstd102humanUncertain significance GRCh37 chr1: 152,248,315-152,409,311 , GRCh38.p12 chr1: 152,275,839-152,436,835 HMGN3P1, FLG2, 3 more genes
    nsv3878890copy number variation1nstd102humanBenign GRCh37 chr1: 152,259,078-152,412,196 , GRCh38.p12 chr1: 152,286,602-152,439,720 FLG, CRNN, 3 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
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