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Items: 1 to 20 of 241

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130430insertion1nstd186human GRCh37 chr17: 78,087,623-78,087,658 , GRCh38.p12 chr17: 80,113,824-80,113,859 GAA
    nsv5969286insertion1nstd209human GRCh38 chr17: 80,113,808-80,113,808 , GRCh37.p13 chr17: 78,087,607-78,087,607 GAA
    nsv5927766copy number variation1nstd209human GRCh38 chr17: 80,110,342-80,110,451 , GRCh37.p13 chr17: 78,084,141-78,084,250 GAA
    nsv5673056copy number variation1nstd102humanPathogenic GRCh37 chr17: 78,091,972-78,092,176 , GRCh38.p12 chr17: 80,118,173-80,118,377 GAA
    nsv5673025copy number variation1nstd102humanPathogenic GRCh38 chr17: 80,111,484-80,118,677 , GRCh37 chr17: 78,085,283-78,092,476 GAA
    nsv5672957copy number variation1nstd102humanPathogenic GRCh38 chr17: 80,108,677-80,116,950 , GRCh37 chr17: 78,082,476-78,090,749 GAA
    nsv5653553insertion1nstd207human GRCh38 chr17: 80,120,342-80,120,342 , GRCh37.p13 chr17: 78,094,141-78,094,141 GAA
    nsv5646885insertion1nstd207human GRCh38 chr17: 80,113,808-80,113,808 , GRCh37.p13 chr17: 78,087,607-78,087,607 GAA
    nsv5589414copy number variation1nstd207human GRCh38 chr17: 80,120,308-80,120,381 , GRCh37.p13 chr17: 78,094,107-78,094,180 GAA
    nsv5544826insertion1nstd206human GRCh38 chr17: 80,113,824-80,113,859 , GRCh37.p13 chr17: 78,087,623-78,087,658 GAA
    nsv5523733copy number variation1nstd206human GRCh38 chr17: 80,096,142-80,101,295 , GRCh37.p13 chr17: 78,069,941-78,075,094 CCDC40, MIR1268B, 1 more genes
    nsv5381256copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,071,024-78,073,594 , GRCh38.p12 chr17: 80,097,225-80,099,795 MIR1268B, CCDC40, 1 more genes
    nsv5381184copy number variation1nstd102humanUncertain significance GRCh37 chr17: 78,090,757-78,093,140 , GRCh38.p12 chr17: 80,116,958-80,119,341 GAA
    nsv5375032translocation1nstd200human GRCh38 chr17: 80,104,000-80,104,000 , GRCh38 chr17: 80,130,928-80,130,928 , GRCh37.p13 chr17: 78,104,727-78,104,727 , GRCh37.p13 chr17: 78,077,799-78,077,799 GAA
    nsv5349724translocation1nstd200human GRCh38 chr17: 80,110,452-80,110,452 , GRCh38 chr17: 80,110,345-80,110,345 , GRCh37.p13 chr17: 78,084,144-78,084,144 , GRCh37.p13 chr17: 78,084,251-78,084,251 GAA
    nsv5156096mobile element insertion1nstd203human GRCh38 chr17: 80,113,811-80,113,824 , GRCh37.p13 chr17: 78,087,610-78,087,623 GAA
    nsv5149967mobile element insertion1nstd203human GRCh38 chr17: 80,113,808-80,113,824 , GRCh37.p13 chr17: 78,087,607-78,087,623 GAA
    nsv5145942mobile element insertion1nstd203human GRCh38 chr17: 80,113,813-80,113,824 , GRCh37.p13 chr17: 78,087,612-78,087,623 GAA
    nsv5143636mobile element insertion1nstd203human GRCh38 chr17: 80,113,815-80,113,824 , GRCh37.p13 chr17: 78,087,614-78,087,623 GAA
    nsv5014085copy number variation1nstd200human GRCh38 chr17: 80,096,142-80,101,295 , GRCh37.p13 chr17: 78,069,941-78,075,094 GAA, CCDC40, 1 more genes
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