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Items: 1 to 20 of 108

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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
    nsv5936103copy number variation1nstd209human GRCh38 chr14: 74,893,533-74,893,616 , GRCh37.p13 chr14: 75,360,236-75,360,319 DLST
    nsv5702945mobile element insertion1nstd211human GRCh38 chr14: 74,886,023-74,886,023 , GRCh37.p13 chr14: 75,352,726-75,352,726 DLST
    nsv5425968mobile element insertion1nstd206human GRCh38 chr14: 74,886,023-74,886,074 , GRCh37.p13 chr14: 75,352,726-75,352,777 DLST
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5000077copy number variation1nstd200human GRCh38 chr14: 74,879,686-74,880,654 , GRCh37.p13 chr14: 75,346,389-75,347,357 DLST
    nsv4833553copy number variation1nstd200human GRCh37 chr14: 75,346,389-75,347,357 , GRCh38.p12 chr14: 74,879,686-74,880,654 DLST
    nsv4680089copy number variation1nstd189human GRCh37.p13 chr14: 74,684,102-75,401,772 , GRCh38.p12 chr14: 74,217,399-74,935,069 DLST, LTBP2, 21 more genes
    nsv4675111copy number variation1nstd102humanUncertain significance GRCh37 chr14: 75,205,276-75,507,538 , GRCh38.p12 chr14: 74,738,573-75,040,835 METTL5P1, RNU6-689P, 10 more genes
    nsv4576123mobile element insertion1nstd166human GRCh37.p13 chr14: 75,351,178-75,351,178 , GRCh38.p12 chr14: 74,884,475-74,884,475 DLST
    nsv4504918mobile element insertion1nstd166human GRCh37.p13 chr14: 75,368,545-75,368,545 , GRCh38.p12 chr14: 74,901,842-74,901,842 DLST
    nsv4503186mobile element insertion1nstd166human GRCh37.p13 chr14: 75,352,714-75,352,714 , GRCh38.p12 chr14: 74,886,011-74,886,011 DLST
    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
    nsv4224749copy number variation1nstd166human GRCh37.p13 chr14: 75,358,296-75,359,277 , GRCh38.p12 chr14: 74,891,593-74,892,574 DLST
    nsv4218101copy number variation1nstd166human GRCh37.p13 chr14: 75,345,726-75,359,016 , GRCh38.p12 chr14: 74,879,023-74,892,313 DLST
    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
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
    nsv3919051copy number variation1nstd102humanLikely pathogenic NCBI36 chr14: 72,879,674-78,371,155 , GRCh37 chr14: 73,809,921-79,301,402 , GRCh38 chr14: 73,343,213-78,835,059 ACYP1, ENTPD5, 137 more genes
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