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Items: 1 to 20 of 272

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5945453copy number variation1nstd209human GRCh38 chr17: 80,240,184-80,240,620 , GRCh37.p13 chr17: 78,213,983-78,214,419 SLC26A11
    nsv5936901copy number variation1nstd209human GRCh38 chr17: 80,231,274-80,231,409 , GRCh37.p13 chr17: 78,205,073-78,205,208 SLC26A11
    nsv5673026copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 78,193,958-78,194,025 , GRCh38 chr17: 80,220,159-80,220,226 SGSH, SLC26A11
    nsv5672895copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,194,005-78,194,132 , GRCh38.p12 chr17: 80,220,206-80,220,333 SGSH, SLC26A11
    nsv5559812sequence alteration1nstd206human GRCh38 chr17: 80,222,528-80,222,540 , GRCh37.p13 chr17: 78,196,327-78,196,339 SLC26A11
    nsv5527514copy number variation1nstd206human GRCh38 chr17: 80,245,499-80,251,701 , GRCh37.p13 chr17: 78,219,298-78,225,500 SLC26A11
    nsv5515390copy number variation1nstd206human GRCh38 chr17: 80,228,421-80,231,410 , GRCh37.p13 chr17: 78,202,220-78,205,209 SLC26A11
    nsv5323473copy number variation1nstd204human GRCh38.p13 chr17: 80,240,195-80,240,630 , GRCh37.p13 chr17: 78,213,994-78,214,429 SLC26A11
    nsv5323398copy number variation1nstd204human GRCh38.p13 chr17: 80,245,517-80,251,682 , GRCh37.p13 chr17: 78,219,316-78,225,481 SLC26A11
    nsv5291572copy number variation1nstd204human GRCh38.p13 chr17: 80,245,468-80,251,698 , GRCh37.p13 chr17: 78,219,267-78,225,497 SLC26A11
    nsv5016978copy number variation1nstd200human GRCh38 chr17: 80,247,984-80,248,675 , GRCh37.p13 chr17: 78,221,783-78,222,474 SLC26A11
    nsv5016977copy number variation1nstd200human GRCh38 chr17: 80,245,543-80,251,656 , GRCh37.p13 chr17: 78,219,342-78,225,455 SLC26A11
    nsv5014088copy number variation1nstd200human GRCh38 chr17: 80,229,529-80,231,476 , GRCh37.p13 chr17: 78,203,328-78,205,275 SLC26A11
    nsv5014086copy number variation1nstd200human GRCh38 chr17: 80,147,023-80,244,563 , GRCh37.p13 chr17: 78,120,822-78,218,362 EIF4A3, CARD14, 2 more genes
    nsv4867454copy number variation1nstd200human GRCh37 chr17: 78,221,783-78,222,474 , GRCh38.p12 chr17: 80,247,984-80,248,675 SLC26A11
    nsv4867453copy number variation1nstd200human GRCh37 chr17: 78,219,342-78,225,455 , GRCh38.p12 chr17: 80,245,543-80,251,656 SLC26A11
    nsv4854425copy number variation1nstd200human GRCh37 chr17: 78,221,262-78,325,262 , GRCh38.p12 chr17: 80,247,463-80,351,462 RNF213-AS1, SLC26A11, 1 more genes
    nsv4676104copy number variation1nstd102humanPathogenic GRCh37 chr17: 73,261,871-78,608,763 , GRCh38.p12 chr17: 75,265,790-80,634,963 LLGL2, TSEN54, 165 more genes
    nsv4633732copy number variation1nstd183human GRCh37 chr17: 77,977,297-78,197,805 , GRCh38.p12 chr17: 80,003,498-80,224,006 GAA, SGSH, 6 more genes
    nsv4557589sequence alteration1nstd166human GRCh37.p13 chr17: 78,197,326-78,198,451 , GRCh38.p12 chr17: 80,223,527-80,224,652 SLC26A11
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