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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5608580insertion1nstd207human GRCh38 chr1: 201,140,579-201,140,579 , GRCh37.p13 chr1: 201,109,707-201,109,707 TMEM9
    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
    nsv4904246copy number variation1nstd200human GRCh38 chr1: 201,160,397-201,168,710 , GRCh37.p13 chr1: 201,129,525-201,137,838 TMEM9
    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
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4580431copy number variation1nstd183human GRCh37 chr1: 201,123,733-201,123,777 , GRCh38.p12 chr1: 201,154,605-201,154,649 TMEM9
    nsv4460193mobile element insertion1nstd166human GRCh37.p13 chr1: 201,104,341-201,104,341 , GRCh38.p12 chr1: 201,135,213-201,135,213 TMEM9
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 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
    nsv3916948copy number variation1nstd102humanUncertain significance NCBI36 chr1: 199,268,692-199,633,333 , GRCh37.p13 chr1: 201,002,069-201,366,710 , GRCh38.p12 chr1: 201,032,941-201,397,582 CACNA1S, LOC101929326, 7 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
    nsv3901050copy number variation1nstd102humanPathogenic GRCh38 chr1: 200,144,603-203,112,078 , NCBI36 chr1: 198,380,354-201,347,829 , GRCh37 chr1: 200,113,731-203,081,206 IPO9, CYB5R1, 80 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
    nsv3889347copy number variation1nstd102humanPathogenic GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491 MIR1231, PTPN14, 543 more genes
    nsv3888143copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,413,479-201,764,737 , GRCh38.p12 chr1: 179,444,344-201,795,609 CSRP1-AS1, EEF1A1P44, 273 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
    nsv3881012copy number variation1nstd102humanPathogenic GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801 LOC105372928, OR2T27, 1062 more genes
    nsv3880739copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,873,507-201,947,585 , GRCh38.p12 chr1: 200,904,379-201,978,457 ASCL5, IPO9, 29 more genes
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