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Items: 1 to 20 of 297

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7138492copy number variation1nstd232human GRCh37.p13 chr2: 207,012,384-207,012,474 , GRCh38.p12 chr2: 206,147,660-206,147,750 , GRCh38.p12 chr2|NW_015495299.1: 256,678-256,768 NDUFS1
    nsv7137958insertion1nstd232human GRCh37.p13 chr2: 207,009,752-207,009,752 , GRCh38.p12 chr2: 206,145,028-206,145,028 , GRCh38.p12 chr2|NW_015495299.1: 254,046-254,046 NDUFS1
    nsv7051809inversion1nstd229human GRCh38 chr2: 206,156,819-206,157,180 , GRCh37.p13 chr2: 207,021,543-207,021,904 NDUFS1
    nsv6697753copy number variation1nstd229human GRCh38 chr2: 206,065,101-206,142,500 , GRCh37.p13 chr2: 206,929,825-207,007,224 GCSHP3, INO80D, 1 more genes
    nsv6695790copy number variation1nstd229human GRCh38 chr2: 206,128,424-206,129,521 , GRCh37.p13 chr2: 206,993,148-206,994,245 NDUFS1
    nsv6691448copy number variation1nstd229human GRCh38 chr2: 206,118,499-206,119,317 , GRCh37.p13 chr2: 206,983,223-206,984,041 NDUFS1
    nsv6690108copy number variation1nstd229human GRCh38 chr2: 206,128,667-206,132,780 , GRCh37.p13 chr2: 206,993,391-206,997,504 NDUFS1
    nsv6685361copy number variation1nstd229human GRCh38 chr2: 206,113,708-206,113,738 , GRCh37.p13 chr2: 206,978,432-206,978,462 GCSHP3, NDUFS1
    nsv6680195copy number variation1nstd229human GRCh38 chr2: 206,113,649-206,116,988 , GRCh37.p13 chr2: 206,978,373-206,981,712 GCSHP3, NDUFS1
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6555548inversion1nstd223human GRCh38 chr2: 206,142,370-206,143,133 , GRCh37.p13 chr2: 207,007,094-207,007,857 NDUFS1
    nsv6547943inversion1nstd223human GRCh38 chr2: 206,135,059-206,135,654 , GRCh37.p13 chr2: 206,999,783-207,000,378 NDUFS1
    nsv6544959inversion1nstd223human GRCh38 chr2: 206,134,675-206,135,689 , GRCh37.p13 chr2: 206,999,399-207,000,413 NDUFS1
    nsv6540718inversion1nstd223human GRCh38 chr2: 206,138,758-206,139,320 , GRCh37.p13 chr2: 207,003,482-207,004,044 NDUFS1
    nsv6537954inversion1nstd223human GRCh38 chr2: 206,118,930-206,119,566 , GRCh37.p13 chr2: 206,983,654-206,984,290 NDUFS1
    nsv6537619inversion1nstd223human GRCh38 chr2: 206,128,233-206,128,723 , GRCh37.p13 chr2: 206,992,957-206,993,447 NDUFS1
    nsv6355192copy number variation1nstd223human GRCh38 chr2: 206,152,625-206,153,612 , GRCh37.p13 chr2: 207,017,349-207,018,336 NDUFS1
    nsv6352874copy number variation1nstd223human GRCh38 chr2: 206,128,431-206,129,498 , GRCh37.p13 chr2: 206,993,155-206,994,222 NDUFS1
    nsv6345980copy number variation1nstd223human GRCh38 chr2: 206,136,721-206,138,277 , GRCh37.p13 chr2: 207,001,445-207,003,001 NDUFS1
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