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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5976251inversion1nstd209human GRCh38 chr12: 132,776,497-132,931,381 , GRCh37.p13 chr12: 133,353,083-133,507,967 GOLGA3, CHFR, 5 more genes
    nsv5863253copy number variation1nstd209human GRCh38 chr12: 132,832,047-132,835,746 , GRCh37.p13 chr12: 133,408,633-133,412,332 RNU6-327P, CHFR
    nsv5660646insertion1nstd207human GRCh38 chr12: 132,835,863-132,835,863 , GRCh37.p13 chr12: 133,412,449-133,412,449 RNU6-327P, CHFR
    nsv5511758copy number variation1nstd206human GRCh38 chr12: 132,801,865-132,847,994 , GRCh37.p13 chr12: 133,378,451-133,424,580 CHFR, RPS11P5, 2 more genes
    nsv5511296copy number variation1nstd206human GRCh38 chr12: 132,788,467-132,880,183 , GRCh37.p13 chr12: 133,365,053-133,456,769 GOLGA3, RNU6-327P, 2 more genes
    nsv5500418copy number variation1nstd206human GRCh38 chr12: 132,650,628-132,851,966 , GRCh37.p13 chr12: 133,227,214-133,428,552 PGAM5, ANKLE2, 8 more genes
    nsv5267482copy number variation1nstd204human GRCh38.p13 chr12: 132,729,601-132,978,900 , GRCh37.p13 chr12: 133,306,187-133,555,486 ANKLE2, LOC647503, 8 more genes
    nsv5262068copy number variation1nstd204human GRCh38.p13 chr12: 132,810,361-132,842,730 , GRCh37.p13 chr12: 133,386,947-133,419,316 RPS11P5, RNU6-327P, 2 more genes
    nsv4990050copy number variation1nstd200human GRCh38 chr12: 132,819,809-133,199,895 , GRCh37.p13 chr12: 133,396,395-133,776,481 ZNF84-DT, NANOGNBP2, 16 more genes
    nsv4839633copy number variation1nstd200human GRCh37 chr12: 133,396,395-133,776,481 , GRCh38.p12 chr12: 132,819,809-133,199,895 CHFR-DT, LOC647503, 16 more genes
    nsv4728857copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,155,089-133,455,925 , GRCh38.p12 chr12: 132,578,503-132,879,339 PGAM5, RNA5SP379, 13 more genes
    nsv4616447copy number variation1nstd183human GRCh37 chr12: 133,411,965-133,541,961 , GRCh38.p12 chr12: 132,835,379-132,965,375 CHFR-DT, RNU6-327P, 3 more genes
    nsv4613212copy number variation1nstd183human GRCh37 chr12: 133,378,447-133,424,580 , GRCh38.p12 chr12: 132,801,861-132,847,994 CHFR, RPS11P5, 2 more genes
    nsv4457191copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,318,988-133,423,884 , GRCh38.p12 chr12: 132,742,402-132,847,298 GOLGA3, LOC100419935, 4 more genes
    nsv4456888copy number variation1nstd102humanUncertain significance GRCh37 chr12: 126,470,636-133,777,902 , GRCh38.p12 chr12: 125,986,090-133,201,316 LINC02347, LOC107987176, 145 more genes
    nsv4456452copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,975,658-133,777,902 , GRCh38.p12 chr12: 132,399,072-133,201,316 RNU4ATAC12P, GOLGA3, 30 more genes
    nsv4436746copy number variation1nstd102humanPathogenic GRCh37 chr12: 131,363,916-133,777,645 , GRCh38.p12 chr12: 130,879,371-133,201,059 LOC107984452, RNA5SP377, 68 more genes
    nsv4416956copy number variation1nstd174human GRCh37 chr12: 133,350,001-133,424,580 , GRCh38.p12 chr12: 132,773,415-132,847,994 GOLGA3, RNU6-327P, 2 more genes
    nsv4383781copy number variation1nstd173human GRCh37 chr12: 133,396,178-133,480,240 , GRCh38.p12 chr12: 132,819,592-132,903,654 GOLGA3, RNU6-327P, 4 more genes
    nsv4349911copy number variation1nstd102humanPathogenic GRCh37 chr12: 125,451,405-133,810,935 , GRCh38.p12 chr12: 124,966,859-133,234,349 LOC107987177, GOLGA3, 159 more genes
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