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Items: 1 to 20 of 103

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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
    nsv5079025mobile element insertion1nstd203human GRCh38 chr1: 150,633,183-150,633,200 , GRCh37.p13 chr1: 150,605,659-150,605,676 LOC112268239
    nsv4903842copy number variation1nstd200human GRCh38 chr1: 150,406,738-150,700,622 , GRCh37.p13 chr1: 150,440,214-150,673,098 ADAMTSL4, ADAMTSL4-AS1, 16 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
    nsv4702994copy number variation1nstd195human GRCh38.p12 chr1: 150,603,175-150,728,025 , GRCh37 chr1: 150,575,651-150,700,501 ENSA, GOLPH3L, 4 more genes
    nsv4579561copy number variation2nstd183human GRCh37 chr1: 150,601,192-150,602,306 , GRCh38.p12 chr1: 150,628,716-150,629,830 LOC112268239, ENSA
    nsv4432954copy number variation1nstd172human GRCh37.p13 chr1: 150,603,584-150,604,647 , GRCh38.p12 chr1: 150,631,108-150,632,171 LOC112268239
    nsv4057833copy number variation1nstd166human GRCh37.p13 chr1: 150,411,480-150,688,820 , GRCh38.p12 chr1: 150,439,004-150,716,344 ADAMTSL4-AS2, ADAMTSL4, 16 more genes
    nsv3958187copy number variation1nstd168human GRCh38 chr1: 150,609,981-150,632,271 , GRCh37.p13 chr1: 150,582,457-150,604,747 ENSA, LOC112268239
    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
    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
    nsv3127880copy number variation1nstd151human GRCh37 chr1: 150,039,912-150,601,586 , GRCh38.p12 chr1: 150,067,855-150,629,110 ADAMTSL4, ADAMTSL4-AS2, 27 more genes
    nsv3127699copy number variation14nstd151human GRCh37 chr1: 150,601,534-150,601,586 , GRCh38.p12 chr1: 150,629,058-150,629,110 ENSA, LOC112268239
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