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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5720542mobile element insertion1nstd211human GRCh38 chr14: 73,943,384-73,943,384 , GRCh37.p13 chr14: 74,410,087-74,410,087 FAM161B
    nsv5554108mobile element insertion1nstd206human GRCh38 chr14: 73,943,384-73,943,435 , GRCh37.p13 chr14: 74,410,087-74,410,138 FAM161B
    nsv5504829copy number variation1nstd206human GRCh38 chr14: 73,949,384-73,951,523 , GRCh37.p13 chr14: 74,416,087-74,418,226 COQ6, FAM161B
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5004789copy number variation1nstd200human GRCh38 chr14: 73,949,486-73,951,632 , GRCh37.p13 chr14: 74,416,189-74,418,335 COQ6, FAM161B
    nsv5004788copy number variation1nstd200human GRCh38 chr14: 73,948,251-73,982,556 , GRCh37.p13 chr14: 74,414,954-74,449,259 COQ6, ENTPD5, 1 more genes
    nsv4831347copy number variation1nstd200human GRCh37 chr14: 74,414,954-74,449,259 , GRCh38.p12 chr14: 73,948,251-73,982,556 FAM161B, COQ6, 1 more genes
    nsv4625674copy number variation1nstd183human GRCh37 chr14: 74,391,363-74,627,713 , GRCh38.p12 chr14: 73,924,660-74,161,010 RNY4P21, ZNF410, 8 more genes
    nsv4550143insertion1nstd166human GRCh37.p13 chr14: 74,409,443-74,409,443 , GRCh38.p12 chr14: 73,942,740-73,942,740 FAM161B
    nsv4451120copy number variation1nstd102humanUncertain significance GRCh38 chr14: 73,645,020-74,260,939 , GRCh37 chr14: 74,111,723-74,727,642 ENTPD5, COQ6, 20 more genes
    nsv4349747copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204 ACYP1, ENTPD5, 72 more genes
    nsv4230916copy number variation1nstd166human GRCh37.p13 chr14: 74,416,087-74,418,226 , GRCh38.p12 chr14: 73,949,384-73,951,523 COQ6, FAM161B
    nsv4222707copy number variation1nstd166human GRCh37.p13 chr14: 74,338,871-74,415,164 , GRCh38.p12 chr14: 73,872,168-73,948,461 PTGR2, COQ6, 2 more genes
    nsv4218587copy number variation1nstd166human GRCh37.p13 chr14: 74,411,736-74,422,949 , GRCh38.p12 chr14: 73,945,033-73,956,246 COQ6, ENTPD5, 1 more genes
    nsv4217115copy number variation1nstd166human GRCh37.p13 chr14: 73,984,520-74,526,186 , GRCh38.p12 chr14: 73,517,816-74,059,483 PNMA1, RPL41P4, 22 more genes
    nsv3957504copy number variation1nstd168human GRCh38 chr14: 73,896,763-73,942,593 , GRCh37.p13 chr14: 74,363,466-74,409,296 ZNF410, FAM161B
    nsv3923727copy number variation1nstd102humanPathogenic GRCh37 chr14: 70,028,816-82,441,728 , GRCh38 chr14: 69,562,099-81,975,384 , NCBI36 chr14: 69,098,569-81,511,481 CEP128, COX6CP11, 240 more genes
    nsv3923448copy number variation1nstd102humanPathogenic NCBI36 chr14: 73,413,528-77,578,518 , GRCh38 chr14: 73,877,072-78,042,422 , GRCh37 chr14: 74,343,775-78,508,765 ZC2HC1C, RPL21P10, 113 more genes
    nsv3922094copy number variation1nstd102humanPathogenic GRCh38 chr14: 73,655,772-106,879,298 , GRCh37 chr14: 74,122,475-107,287,505 , NCBI36 chr14: 73,192,228-106,358,550 LOC105370614, LOC105370617, 849 more genes
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