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Items: 1 to 20 of 136

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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
    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
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4580364copy number variation1nstd183human GRCh37 chr1: 207,049,831-207,205,030 , GRCh38.p12 chr1: 206,876,486-207,031,685 PIGR, FCMR, 6 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
    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
    nsv3962609copy number variation1nstd168human GRCh38 chr1: 206,856,943-206,899,089 , GRCh37.p13 chr1: 207,030,288-207,072,434 IL24, IL20, 1 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
    nsv3892738copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,734,042-225,596,400 , NCBI36 chr1: 203,000,665-223,663,023 , GRCh38 chr1: 204,764,914-225,408,698 HLX, SNORA16B, 354 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
    nsv3881313copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,682,513-212,815,646 , GRCh38.p12 chr1: 204,713,385-212,642,304 IL19, LOC107985250, 184 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
    nsv3879807copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,811,907-228,997,888 , GRCh38.p12 chr1: 197,842,777-228,862,141 RABIF, CFAP144P3, 637 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3877139copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 204,033,173-208,209,798 , GRCh37.p13 chr1: 204,002,301-208,383,143 AVPR1B, C4BPA, 120 more genes
    nsv3870877copy number variation1nstd102humanLikely benign GRCh37 chr1: 206,961,307-207,252,090 , GRCh38.p12 chr1: 206,787,962-207,078,745 RPL13AP8, YOD1, 11 more genes
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