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Items: 1 to 20 of 136

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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
    nsv5944728copy number variation1nstd209human GRCh38 chr14: 67,341,496-67,341,593 , GRCh37.p13 chr14: 67,808,213-67,808,310 ATP6V1D
    nsv5931378copy number variation1nstd209human GRCh38 chr14: 67,255,048-67,637,246 , GRCh37.p13 chr14: 67,721,765-68,103,963 , MIR5694, 11 more genes
    nsv5714321mobile element insertion1nstd211human GRCh38 chr14: 67,351,869-67,351,869 , GRCh37.p13 chr14: 67,818,586-67,818,586 ATP6V1D
    nsv5698554mobile element insertion1nstd211human GRCh38 chr14: 67,351,922-67,351,922 , GRCh37.p13 chr14: 67,818,639-67,818,639 ATP6V1D
    nsv5422655mobile element insertion1nstd206human GRCh38 chr14: 67,351,869-67,351,920 , GRCh37.p13 chr14: 67,818,586-67,818,637 ATP6V1D
    nsv5380972copy number variation2nstd102humanUncertain significance GRCh37 chr14: 65,937,790-68,354,021 , GRCh38.p12 chr14: 65,471,072-67,887,304 RPL21P9, LOC100419668, 35 more genes
    nsv5147256mobile element insertion1nstd203human GRCh38 chr14: 67,355,449-67,355,480 , GRCh37.p13 chr14: 67,822,166-67,822,197 ATP6V1D
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4838047copy number variation1nstd200human GRCh37 chr14: 67,721,720-68,104,019 , GRCh38.p12 chr14: 67,255,003-67,637,302 , PIGH, 11 more genes
    nsv4675709copy number variation1nstd102humanUncertain significance GRCh37 chr14: 67,331,167-68,451,970 , GRCh38.p12 chr14: 66,864,449-67,985,253 RDH11, RN7SL369P, 25 more genes
    nsv4574903mobile element insertion1nstd166human GRCh37.p13 chr14: 67,821,031-67,821,031 , GRCh38.p12 chr14: 67,354,314-67,354,314 ATP6V1D
    nsv4529257copy number variation1nstd166human GRCh37.p13 chr14: 67,433,394-68,147,101 , GRCh38.p12 chr14: 66,966,677-67,680,384 , SF3B4P1, 19 more genes
    nsv4323072inversion1nstd166human GRCh37.p13 chr14: 66,260,597-70,789,330 , GRCh38.p12 chr14: 65,793,879-70,322,613 , ACTN1, 81 more genes
    nsv4223531copy number variation1nstd166human GRCh37.p13 chr14: 67,807,963-67,808,016 , GRCh38.p12 chr14: 67,341,246-67,341,299 ATP6V1D
    nsv4221763copy number variation1nstd166human GRCh37.p13 chr14: 67,825,000-67,830,000 , GRCh38.p12 chr14: 67,358,283-67,363,283 ATP6V1D, EIF2S1
    nsv4219411copy number variation1nstd166human GRCh37.p13 chr14: 67,747,950-67,815,000 , GRCh38.p12 chr14: 67,281,233-67,348,283 ATP6V1D, PALS1
    nsv4212701copy number variation1nstd166human GRCh37.p13 chr14: 67,803,947-67,806,110 , GRCh38.p12 chr14: 67,337,230-67,339,393 ATP6V1D
    nsv3957803insertion1nstd168human GRCh38 chr14: 67,340,668-67,397,568 , GRCh37.p13 chr14: 67,807,385-67,864,285 EIF2S1, PLEK2, 1 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
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