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Items: 1 to 20 of 314

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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
    nsv7094994copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,194,005-78,194,112 , GRCh38.p12 chr17: 80,220,206-80,220,313 SGSH, SLC26A11
    nsv7094992copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,188,394-78,194,112 , GRCh38.p12 chr17: 80,214,595-80,220,313 SGSH, SLC26A11
    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
    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
    nsv6997760copy number variation1nstd229human GRCh38 chr17: 80,236,521-80,236,553 , GRCh37.p13 chr17: 78,210,320-78,210,352 SLC26A11
    nsv6997348copy number variation1nstd229human GRCh38 chr17: 80,233,240-80,246,727 , GRCh37.p13 chr17: 78,207,039-78,220,526 SLC26A11
    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
    nsv6993950copy number variation1nstd229human GRCh38 chr17: 80,247,463-80,351,459 , GRCh37.p13 chr17: 78,221,262-78,325,259 RNF213, SLC26A11, 1 more genes
    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
    nsv6989924copy number variation1nstd229human GRCh38 chr17: 80,238,751-80,248,041 , GRCh37.p13 chr17: 78,212,550-78,221,840 SLC26A11
    nsv6988193copy number variation1nstd229human GRCh38 chr17: 80,231,091-80,238,749 , GRCh37.p13 chr17: 78,204,890-78,212,548 SLC26A11
    nsv6988027copy number variation1nstd229human GRCh38 chr17: 80,225,221-80,225,716 , GRCh37.p13 chr17: 78,199,020-78,199,515 SLC26A11
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