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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5875361copy number variation1nstd209human GRCh37.p13 chr1|NW_003871055.3: 6,887,192-7,052,980 , GRCh38 chr1: 150,071,779-150,237,567 , GRCh37.p13 chr1: 150,043,844-150,209,915 VPS45, PLEKHO1, 4 more genes
    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
    nsv4716373copy number variation1nstd195human GRCh37 chr1: 150,000,001-150,452,951 , GRCh38.p12 chr1: 150,028,043-150,480,475 , CA14, 15 more genes
    nsv4378584copy number variation1nstd173human GRCh37 chr1: 149,981,338-150,286,562 , GRCh38.p12 chr1: 150,009,389-150,314,126 , APH1A, 14 more genes
    nsv4378097copy number variation1nstd173human GRCh37 chr1: 150,087,337-150,120,767 , GRCh38.p12 chr1: 150,115,219-150,148,577 VPS45, PLEKHO1
    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
    nsv3891069copy number variation1nstd102humanUncertain significance GRCh38 chr1: 150,034,379-150,414,215 , GRCh37 chr1: 150,006,344-150,311,095 , NCBI36 chr1: 148,272,968-148,653,315 C1orf54, ANP32E, 14 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
    nsv3870835copy number variation1nstd102humanPathogenic GRCh37 chr1: 149,895,368-150,130,518 , GRCh38.p12 chr1: 149,923,476-150,158,324 SF3B4, MTMR11, 4 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
    nsv3133155copy number variation1nstd151human GRCh37 chr1: 150,053,421-150,131,723 , GRCh38.p12 chr1: 150,081,339-150,159,528 LINC02988, PLEKHO1, 1 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
    nsv1501204short tandem repeat3nstd128human GRCh37 chr1: 150,126,111-150,126,121 , GRCh38.p12 chr1: 150,153,918-150,153,927 PLEKHO1
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