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Items: 1 to 20 of 261

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099252copy number variation1nstd231human GRCh38.p12 chr1: 179,130,308-181,685,140 , GRCh37 chr1: 179,099,443-181,654,276 ABL2, CACNA1E, 48 more genes
    nsv6645738copy number variation1nstd229human GRCh38 chr1: 179,918,685-179,955,432 , GRCh37.p13 chr1: 179,887,820-179,924,567 TOR1AIP1, CEP350, 1 more genes
    nsv6645736copy number variation1nstd229human GRCh38 chr1: 179,883,458-179,883,591 , GRCh37.p13 chr1: 179,852,593-179,852,726 TOR1AIP1
    nsv6645732copy number variation1nstd229human GRCh38 chr1: 179,769,936-180,207,393 , GRCh37.p13 chr1: 179,739,071-180,176,528 TOR1AIP1, TOR1AIP2, 11 more genes
    nsv6645590copy number variation1nstd229human GRCh38 chr1: 179,909,701-179,916,900 , GRCh37.p13 chr1: 179,878,836-179,886,035 TOR1AIP1
    nsv6645215copy number variation1nstd229human GRCh38 chr1: 179,919,536-179,937,384 , GRCh37.p13 chr1: 179,888,671-179,906,519 LOC101928933, TOR1AIP1
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6554395inversion1nstd223human GRCh38 chr1: 179,891,476-179,892,194 , GRCh37.p13 chr1: 179,860,611-179,861,329 TOR1AIP1
    nsv6547675inversion1nstd223human GRCh38 chr1: 179,908,872-179,909,398 , GRCh37.p13 chr1: 179,878,007-179,878,533 TOR1AIP1
    nsv6544321inversion1nstd223human GRCh38 chr1: 179,885,995-179,887,332 , GRCh37.p13 chr1: 179,855,130-179,856,467 TOR1AIP1
    nsv6543791inversion1nstd223human GRCh38 chr1: 179,891,670-179,892,435 , GRCh37.p13 chr1: 179,860,805-179,861,570 TOR1AIP1
    nsv6541581inversion1nstd223human GRCh38 chr1: 179,893,270-179,893,508 , GRCh37.p13 chr1: 179,862,405-179,862,643 TOR1AIP1
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6318860copy number variation1nstd223human GRCh38 chr1: 179,769,936-180,207,393 , GRCh37.p13 chr1: 179,739,071-180,176,528 FAM163A, LOC105371634, 11 more genes
    nsv6310922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 179,520,308-183,559,464 , GRCh38.p12 chr1: 179,551,173-183,590,329 NMNAT2, FAM163A, 78 more genes
    nsv6310767copy number variation1nstd102humanUncertain significance GRCh37 chr1: 179,876,938-179,877,828 , GRCh38.p12 chr1: 179,907,803-179,908,693 TOR1AIP1
    nsv6290451copy number variation1nstd102humanPathogenic GRCh37 chr1: 178,522,021-190,322,133 , GRCh38.p12 chr1: 178,552,886-190,353,003 RNU7-13P, LOC105371642, 167 more genes
    nsv6162103copy number variation1nstd214human GRCh38 chr1: 179,909,107-179,909,156 , GRCh37.p13 chr1: 179,878,242-179,878,291 TOR1AIP1
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
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