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Items: 1 to 20 of 229

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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
    nsv7095618copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,290,013-45,292,899 , GRCh38.p12 chr1: 44,824,341-44,827,227 PTCH2
    nsv7095617copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,087-45,308,604 , GRCh38.p12 chr1: 44,822,415-44,842,932 PTCH2, LOC107984952
    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
    nsv6650473copy number variation1nstd229human GRCh38 chr1: 44,840,751-44,841,243 , GRCh37.p13 chr1: 45,306,423-45,306,915 PTCH2
    nsv6650472copy number variation1nstd229human GRCh38 chr1: 44,839,982-44,848,569 , GRCh37.p13 chr1: 45,305,654-45,314,241 EIF2B3, PTCH2
    nsv6650396copy number variation1nstd229human GRCh38 chr1: 44,819,933-44,925,977 , GRCh37.p13 chr1: 45,285,605-45,391,649 LOC107984952, RNU5E-6P, 2 more genes
    nsv6650395copy number variation1nstd229human GRCh38 chr1: 44,819,829-44,819,952 , GRCh37.p13 chr1: 45,285,501-45,285,624 RNU5E-6P, PTCH2, 1 more genes
    nsv6650394copy number variation1nstd229human GRCh38 chr1: 44,813,387-44,818,053 , GRCh37.p13 chr1: 45,279,059-45,283,725 RNU5E-6P, BTBD19, 2 more genes
    nsv6649743copy number variation1nstd229human GRCh38 chr1: 44,833,071-44,840,982 , GRCh37.p13 chr1: 45,298,743-45,306,654 PTCH2
    nsv6326357copy number variation1nstd223human GRCh38 chr1: 44,833,684-44,834,207 , GRCh37.p13 chr1: 45,299,356-45,299,879 PTCH2
    nsv6323191copy number variation1nstd223human GRCh38 chr1: 44,813,072-44,817,960 , GRCh37.p13 chr1: 45,278,744-45,283,632 BTBD19, LOC107984952, 2 more genes
    nsv6318868copy number variation1nstd223human GRCh38 chr1: 44,837,816-44,839,112 , GRCh37.p13 chr1: 45,303,488-45,304,784 PTCH2
    nsv6315968copy number variation1nstd223human GRCh38 chr1: 44,796,801-44,835,100 , GRCh37.p13 chr1: 45,262,473-45,300,772 PLK3, BTBD19, 4 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
    nsv6311021copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,087-45,289,067 , GRCh38.p12 chr1: 44,822,415-44,823,395 LOC107984952, PTCH2
    nsv6310813copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,307,509-45,308,604 , GRCh38.p12 chr1: 44,841,837-44,842,932 PTCH2
    nsv6310812copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,295,206-45,297,698 , GRCh38.p12 chr1: 44,829,534-44,832,026 PTCH2
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