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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130059insertion1nstd186human GRCh37 chr14: 67,862,975-67,862,975 , GRCh38.p12 chr14: 67,396,258-67,396,258 PLEK2
    nsv6122950copy number variation1nstd186human GRCh37 chr14: 67,866,078-67,866,445 , GRCh38.p12 chr14: 67,399,361-67,399,728 PLEK2
    nsv6115651mobile element insertion1nstd186human GRCh37 chr14: 67,863,252-67,863,302 , GRCh38.p12 chr14: 67,396,535-67,396,585 PLEK2
    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
    nsv5946316copy number variation1nstd209human GRCh38 chr14: 67,398,544-67,398,625 , GRCh37.p13 chr14: 67,865,261-67,865,342 PLEK2
    nsv5931378copy number variation1nstd209human GRCh38 chr14: 67,255,048-67,637,246 , GRCh37.p13 chr14: 67,721,765-68,103,963 , MIR5694, 11 more genes
    nsv5712388mobile element insertion2nstd211human GRCh38 chr14: 67,396,585-67,396,585 , GRCh37.p13 chr14: 67,863,302-67,863,302 PLEK2
    nsv5656715insertion1nstd207human GRCh38 chr14: 67,399,293-67,399,293 , GRCh37.p13 chr14: 67,866,010-67,866,010 PLEK2
    nsv5654432insertion1nstd207human GRCh38 chr14: 67,396,241-67,396,241 , GRCh37.p13 chr14: 67,862,958-67,862,958 PLEK2
    nsv5653596insertion1nstd207human GRCh38 chr14: 67,399,607-67,399,607 , GRCh37.p13 chr14: 67,866,324-67,866,324 PLEK2
    nsv5603230copy number variation1nstd207human GRCh38 chr14: 67,398,544-67,398,625 , GRCh37.p13 chr14: 67,865,261-67,865,342 PLEK2
    nsv5599552copy number variation1nstd207human GRCh38 chr14: 67,399,445-67,399,606 , GRCh37.p13 chr14: 67,866,162-67,866,323 PLEK2
    nsv5541134insertion1nstd206human GRCh38 chr14: 67,396,258-67,396,258 , GRCh37.p13 chr14: 67,862,975-67,862,975 PLEK2
    nsv5513821copy number variation1nstd206human GRCh38 chr14: 67,399,361-67,399,728 , GRCh37.p13 chr14: 67,866,078-67,866,445 PLEK2
    nsv5424081mobile element insertion1nstd206human GRCh38 chr14: 67,396,535-67,396,585 , GRCh37.p13 chr14: 67,863,252-67,863,302 PLEK2
    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
    nsv5159589mobile element insertion1nstd203human GRCh38 chr14: 67,396,244-67,396,270 , GRCh37.p13 chr14: 67,862,961-67,862,987 PLEK2
    nsv5158894mobile element insertion1nstd203human GRCh38 chr14: 67,396,203-67,396,241 , GRCh37.p13 chr14: 67,862,920-67,862,958 PLEK2
    nsv5157611mobile element insertion1nstd203human GRCh38 chr14: 67,396,584-67,396,584 , GRCh37.p13 chr14: 67,863,301-67,863,301 PLEK2
    nsv5157077mobile element insertion1nstd203human GRCh38 chr14: 67,397,040-67,397,066 , GRCh37.p13 chr14: 67,863,757-67,863,783 PLEK2
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