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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
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5955526insertion1nstd209human GRCh38 chr2: 26,714,468-26,714,468 , GRCh37.p13 chr2: 26,937,336-26,937,336 KCNK3
    nsv5612536insertion1nstd207human GRCh38 chr2: 26,714,468-26,714,468 , GRCh37.p13 chr2: 26,937,336-26,937,336 KCNK3
    nsv5541259insertion1nstd206human GRCh38 chr2: 26,714,468-26,714,468 , GRCh37.p13 chr2: 26,937,336-26,937,336 KCNK3
    nsv5284505copy number variation1nstd204human GRCh37.p13 chr2: 26,616,860-26,944,548 , GRCh38.p13 chr2: 26,393,992-26,721,680 KCNK3, OTOF, 5 more genes
    nsv5216982copy number variation1nstd204human GRCh37.p13 chr2: 26,616,869-26,944,668 , GRCh38.p13 chr2: 26,394,001-26,721,800 KCNK3, OTOF, 5 more genes
    nsv4900766copy number variation1nstd200human GRCh38 chr2: 26,706,828-26,706,905 , GRCh37.p13 chr2: 26,929,696-26,929,773 KCNK3
    nsv4900765copy number variation1nstd200human GRCh38 chr2: 26,698,385-26,698,566 , GRCh37.p13 chr2: 26,921,253-26,921,434 KCNK3
    nsv4788330copy number variation1nstd200human GRCh37 chr2: 26,616,884-26,944,526 , GRCh38.p12 chr2: 26,394,016-26,721,658 SELENOI, DRC1, 5 more genes
    nsv4775862copy number variation1nstd200human GRCh37 chr2: 26,929,696-26,929,773 , GRCh38.p12 chr2: 26,706,828-26,706,905 KCNK3
    nsv4768670insertion1nstd186human GRCh37 chr2: 26,937,335-26,937,335 , GRCh38.p12 chr2: 26,714,467-26,714,467 KCNK3
    nsv4753424insertion1nstd199human GRCh37 chr2: 26,937,336-26,937,336 , GRCh38.p12 chr2: 26,714,468-26,714,468 KCNK3
    nsv4684922insertion1nstd194human GRCh37 chr2: 26,937,335-26,937,335 , GRCh38.p12 chr2: 26,714,467-26,714,467 KCNK3
    nsv4595482copy number variation1nstd183human GRCh37 chr2: 26,915,033-26,916,237 , GRCh38.p12 chr2: 26,692,165-26,693,369 KCNK3
    nsv4466427mobile element insertion1nstd166human GRCh37.p13 chr2: 26,919,060-26,919,060 , GRCh38.p12 chr2: 26,696,192-26,696,192 KCNK3
    nsv4446520insertion1nstd175human GRCh37 chr2: 26,937,336-26,937,336 , GRCh38.p12 chr2: 26,714,468-26,714,468 KCNK3
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv4054302copy number variation1nstd166human GRCh37.p13 chr2: 26,525,509-26,946,562 , GRCh38.p12 chr2: 26,302,641-26,723,694 KCNK3, OTOF, 7 more genes
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