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Items: 1 to 20 of 180

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7096051copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,966,005-45,977,106 , GRCh38.p12 chr1: 45,500,333-45,511,434 MMACHC, PRDX1, 1 more genes
    nsv7095532copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,966,005-45,984,715 , GRCh38.p12 chr1: 45,500,333-45,519,043 PRDX1, MMACHC, 1 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7052236inversion1nstd229human GRCh38 chr1: 45,460,547-45,911,102 , GRCh37.p13 chr1: 45,926,219-46,376,774 MAST2, RPS15AP10, 16 more genes
    nsv6650720copy number variation1nstd229human GRCh38 chr1: 45,497,430-45,511,594 , GRCh37.p13 chr1: 45,963,102-45,977,266 CCDC163, MMACHC, 1 more genes
    nsv6650504copy number variation1nstd229human GRCh38 chr1: 45,413,655-45,561,128 , GRCh37.p13 chr1: 45,879,327-46,026,800 MMACHC, TESK2, 5 more genes
    nsv6650501copy number variation1nstd229human GRCh38 chr1: 45,347,008-45,611,537 , GRCh37.p13 chr1: 45,812,680-46,077,209 PRDX1, AKR1A1, 6 more genes
    nsv6650414copy number variation1nstd229human GRCh38 chr1: 45,466,152-45,640,828 , GRCh37.p13 chr1: 45,931,824-46,106,500 CCDC163, NASP, 7 more genes
    nsv6649978copy number variation1nstd229human GRCh38 chr1: 45,284,916-45,996,554 , GRCh37.p13 chr1: 45,750,588-46,462,226 HPDL, PPIAP36, 22 more genes
    nsv6330085copy number variation1nstd223human GRCh38 chr1: 45,495,826-45,502,742 , GRCh37.p13 chr1: 45,961,498-45,968,414 MMACHC, CCDC163
    nsv6315797copy number variation1nstd223human GRCh38 chr1: 45,413,655-45,561,128 , GRCh37.p13 chr1: 45,879,327-46,026,800 PRDX1, PPIAP36, 5 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6310965copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,995-45,966,095 , GRCh38.p12 chr1: 45,500,323-45,500,423 MMACHC, CCDC163
    nsv6155915copy number variation1nstd214human GRCh38 chr1: 45,499,365-45,499,429 , GRCh37.p13 chr1: 45,965,037-45,965,101 MMACHC, CCDC163
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv6112672copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,972-45,979,054 , GRCh38.p12 chr1: 45,500,300-45,513,382 CCDC163, PRDX1, 1 more genes
    nsv6045115insertion1nstd212human GRCh38 chr1: 45,497,708-45,497,708 , GRCh37.p13 chr1: 45,963,380-45,963,380 CCDC163
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