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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
    nsv4579554copy number variation1nstd183human GRCh37 chr1: 149,850,351-149,930,852 , GRCh38.p12 chr1: 149,878,801-149,958,935 H2AC20, H2BC21, 6 more genes
    nsv4579553copy number variation1nstd183human GRCh37 chr1: 149,791,739-149,872,081 , GRCh38.p12 chr1: 149,820,184-149,900,528 H2BC21, H4C15, 10 more genes
    nsv4579293copy number variation1nstd183human GRCh37 chr1: 149,856,169-149,871,438 , GRCh38.p12 chr1: 149,884,619-149,899,885 H2BC21, BOLA1, 2 more genes
    nsv4579292copy number variation1nstd183human GRCh37 chr1: 149,855,936-149,859,097 , GRCh38.p12 chr1: 149,884,386-149,887,547 H2AC20, H2BC21, 1 more genes
    nsv4579291copy number variation1nstd183human GRCh37 chr1: 149,788,216-149,857,110 , GRCh38.p12 chr1: 149,816,662-149,885,560 H3C15, H2AC19, 9 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
    nsv3884446copy number variation1nstd102humanUncertain significance GRCh37 chr1: 149,802,401-149,944,241 , GRCh38.p12 chr1: 149,830,837-149,972,313 H3C14, H2AC21, 14 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
    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
    nsv3135254copy number variation2nstd151human GRCh37 chr1: 149,857,807-149,858,919 , GRCh38.p12 chr1: 149,886,257-149,887,369 H2AC21, H2BC21, 1 more genes
    nsv3122414copy number variation1nstd151human GRCh37 chr1: 149,857,807-149,872,031 , GRCh38.p12 chr1: 149,886,257-149,900,478 BOLA1, H2BC21, 2 more genes
    nsv3120884copy number variation1nstd151human GRCh37 chr1: 149,857,807-149,859,471 , GRCh38.p12 chr1: 149,886,257-149,887,921 H2BC21, H2AC20, 1 more genes
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