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Items: 1 to 20 of 149

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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
    nsv4898364copy number variation1nstd200human GRCh38 chr1: 206,119,857-206,127,240 , GRCh37.p13 chr1|NW_003871057.1: 110,711-118,094 , GRCh37.p13 chr1: 206,214,095-206,221,478 LOC105372869
    nsv4774120copy number variation1nstd200human GRCh37 chr1: 206,214,086-206,221,447 , GRCh38.p12 chr1: 206,119,882-206,127,243 LOC105372869
    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
    nsv4580462copy number variation1nstd183human GRCh37 chr1: 206,072,852-206,214,769 , GRCh38.p12 chr1: 206,126,562-206,268,500 LOC105372869, SRGAP2, 3 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
    nsv4053407copy number variation1nstd166human GRCh37.p13 chr1: 206,214,119-206,221,447 , GRCh38.p12 chr1: 206,119,884-206,127,212 LOC105372869
    nsv3955349copy number variation1nstd168human GRCh37.p13 chr1|NW_003871057.1: 87,330-161,155 , GRCh38 chr1: 206,096,476-206,170,301 , GRCh37.p13 chr1: 206,171,029-206,244,855 LOC105372873, AVPR1B, 3 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
    nsv3914615copy number variation1nstd102humanUncertain significance NCBI36 chr1: 204,188,440-204,380,168 , GRCh37.p13 chr1|NW_003871057.1: 118,640-259,498 , GRCh37.p13 chr1: 205,921,817-206,213,545 , GRCh38.p12 chr1: 206,127,786-206,268,643 LOC105372873, SRGAP2, 3 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
    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
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