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Items: 1 to 20 of 233

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095368copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,187,951-78,247,223 , GRCh38.p12 chr17: 80,214,152-80,273,424 SLC26A11, SGSH, 1 more genes
    nsv7095367copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,177,655-78,183,100 , GRCh38.p12 chr17: 80,203,856-80,209,301 SGSH, CARD14
    nsv7094994copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,194,005-78,194,112 , GRCh38.p12 chr17: 80,220,206-80,220,313 SGSH, SLC26A11
    nsv7094993copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,188,510-78,190,896 , GRCh38.p12 chr17: 80,214,711-80,217,097 SGSH
    nsv7094992copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,188,394-78,194,112 , GRCh38.p12 chr17: 80,214,595-80,220,313 SGSH, SLC26A11
    nsv7094991copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,177,601-78,179,471 , GRCh38.p12 chr17: 80,203,802-80,205,672 CARD14, SGSH
    nsv7094925copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,109,289-78,272,338 , GRCh38.p12 chr17: 80,135,490-80,298,538 RNF213, SGSH, 3 more genes
    nsv7094921copy number variation1nstd102humanUncertain significance GRCh37 chr17: 76,851,749-78,367,298 , GRCh38.p12 chr17: 78,855,667-80,393,498 RNF213-AS1, EIF4A3, 25 more genes
    nsv7093593insertion1nstd102humanPathogenic GRCh37 chr17: 78,186,024-78,186,024 , GRCh38 chr17: 80,212,225-80,212,225 SGSH
    nsv7093573delins1nstd102humanPathogenic GRCh37 chr17: 78,186,025-78,186,029 , GRCh38 chr17: 80,212,226-80,212,230 SGSH
    nsv7093229copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 78,193,605-78,194,077 , GRCh38 chr17: 80,219,806-80,220,278 SGSH, SLC26A11
    nsv7072983inversion1nstd229human GRCh38 chr17: 79,606,852-81,315,890 , GRCh37.p13 chr17: 77,766,017-79,289,690 MIR4739, MIR4730, 44 more genes
    nsv7071296inversion1nstd229human GRCh38 chr17: 79,045,634-82,531,412 , GRCh37.p13 chr17: 77,041,716-80,489,288 , ENPP7, 111 more genes
    nsv7067212inversion1nstd229human GRCh38 chr17: 79,320,851-81,127,081 , GRCh37.p13 chr17: 77,316,933-79,100,881 RPL32P31, RPTOR, 35 more genes
    nsv7065384inversion1nstd229human GRCh38 chr17: 79,173,003-81,030,493 , GRCh37.p13 chr17: 77,169,085-79,004,293 GAA, ENPP7, 30 more genes
    nsv7061803inversion1nstd229human GRCh38 chr17: 79,169,515-81,031,248 , GRCh37.p13 chr17: 77,165,597-79,005,048 CBX4, SLC26A11, 30 more genes
    nsv6996373copy number variation1nstd229human GRCh38 chr17: 79,887,682-80,319,110 , GRCh37.p13 chr17: 77,861,481-78,292,910 LINC01979, GAA, 9 more genes
    nsv6993923copy number variation1nstd229human GRCh38 chr17: 80,217,586-80,217,639 , GRCh37.p13 chr17: 78,191,385-78,191,438 SGSH
    nsv6993667copy number variation1nstd229human GRCh38 chr17: 78,709,580-81,173,842 , GRCh37.p13 chr17: 76,705,662-79,147,642 C1QTNF1-AS1, NPTX1, 47 more genes
    nsv6993399copy number variation1nstd229human GRCh38 chr17: 80,209,609-80,218,696 , GRCh37.p13 chr17: 78,183,408-78,192,495 SLC26A11, SGSH, 1 more genes
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