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Items: 1 to 20 of 175

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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
    nsv5216118mobile element deletion1nstd204human GRCh38.p13 chr1: 203,161,564-203,161,882 , GRCh37.p13 chr1: 203,130,692-203,131,010 ADORA1
    nsv4774100mobile element deletion1nstd200human GRCh37 chr1: 203,130,701-203,131,002 , GRCh38.p12 chr1: 203,161,573-203,161,874 ADORA1
    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
    nsv4673953copy number variation1nstd102humanUncertain significance GRCh37 chr1: 203,078,722-203,210,585 , GRCh38.p12 chr1: 203,109,594-203,241,457 ADORA1, CHI3L1, 2 more genes
    nsv4594234copy number variation1nstd183human GRCh37 chr1: 203,134,126-203,168,164 , GRCh38.p12 chr1: 203,164,998-203,199,036 ADORA1, MYBPH, 1 more genes
    nsv4580340copy number variation1nstd183human GRCh37 chr1: 203,132,307-203,174,864 , GRCh38.p12 chr1: 203,163,179-203,205,736 CHI3L1, MYBPH, 1 more genes
    nsv4460562mobile element insertion1nstd166human GRCh37.p13 chr1: 203,120,939-203,120,939 , GRCh38.p12 chr1: 203,151,811-203,151,811 ADORA1
    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
    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
    nsv3910929copy number variation1nstd102humanUncertain significance NCBI36 chr1: 201,131,787-201,939,146 , GRCh37.p13 chr1: 202,865,164-203,672,523 , GRCh38.p12 chr1: 202,896,036-203,703,395 RPS20P8, MYBPH, 28 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
    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
    nsv3883915copy number variation1nstd102humanUncertain significance GRCh37 chr1: 203,134,126-203,160,335 , GRCh38.p12 chr1: 203,164,998-203,191,207 ADORA1, CHI3L1, 1 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
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