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Items: 1 to 20 of 27

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1398456copy number variation5nstd102humanPathogenic GRCh38 chr1: 155,235,750-155,235,804 , GRCh37 chr1: 155,205,541-155,205,595 GBA1
    nsv3901458copy number variation1nstd102humanBenign GRCh37 chr12: 111,946,914-111,979,508 , GRCh38.p12 chr12: 111,509,110-111,541,704 ATXN2
    nsv3909286copy number variation1nstd102humanBenign GRCh37 chr12: 111,947,122-111,979,508 , GRCh38.p12 chr12: 111,509,318-111,541,704 ATXN2
    nsv3908761copy number variation1nstd102humanBenign GRCh37 chr12: 111,952,167-111,979,508 , GRCh38.p12 chr12: 111,514,363-111,541,704 ATXN2
    nsv3897397copy number variation1nstd102humanBenign GRCh37 chr12: 111,976,618-112,003,383 , GRCh38.p12 chr12: 111,538,814-111,565,579 ATXN2
    nsv3898154copy number variation1nstd102humanBenign GRCh37 chr12: 111,953,704-111,979,850 , GRCh38.p12 chr12: 111,515,900-111,542,046 ATXN2
    nsv3903775copy number variation1nstd102humanBenign GRCh37 chr12: 111,953,704-111,979,508 , GRCh38.p12 chr12: 111,515,900-111,541,704 ATXN2
    nsv3902559copy number variation1nstd102humanBenign GRCh37 chr12: 111,976,618-111,993,712 , GRCh38.p12 chr12: 111,538,814-111,555,908 ATXN2
    nsv3893448copy number variation1nstd102humanBenign GRCh37 chr12: 111,976,618-111,979,850 , GRCh38.p12 chr12: 111,538,814-111,542,046 ATXN2
    nsv3900723copy number variation1nstd102humanBenign GRCh37 chr12: 112,035,918-112,037,191 , GRCh38.p12 chr12: 111,598,114-111,599,387 ATXN2, ATXN2-AS
    nsv4673939copy number variation1nstd102humanPathogenic GRCh37 chr1: 155,188,179-155,209,868 , GRCh38.p12 chr1: 155,218,388-155,240,077 GBA1LP, MTX1LP, 1 more genes
    nsv3898190copy number variation1nstd102humanBenign GRCh37 chr12: 111,947,070-112,037,191 , GRCh38.p12 chr12: 111,509,266-111,599,387 ATXN2, IFITM3P5, 1 more genes
    nsv3897547copy number variation1nstd102humanBenign GRCh37 chr12: 111,952,167-112,037,191 , GRCh38.p12 chr12: 111,514,363-111,599,387 ATXN2, IFITM3P5, 1 more genes
    nsv3907275copy number variation1nstd102humanBenign GRCh37 chr12: 111,976,618-112,037,191 , GRCh38.p12 chr12: 111,538,814-111,599,387 ATXN2, IFITM3P5, 1 more genes
    nsv3895537copy number variation1nstd102humanBenign GRCh37 chr12: 112,001,017-112,037,450 , GRCh38.p12 chr12: 111,563,213-111,599,646 ATXN2, ATXN2-AS, 1 more genes
    nsv3888587copy number variation2nstd102humanPathogenic NCBI36 chr14: 30,932,976-31,194,846 , GRCh37 chr14: 31,867,179-32,280,475 , GRCh38 chr14: 31,394,019-31,655,889 GPR33, HEATR5A, 6 more genes
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 ATXN2, LOC105369964, 147 more genes
    nsv3916234copy number variation1nstd102humanPathogenic NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686 ATXN2, LOC100287944, 141 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATXN2, ATP2A2, 115 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 ATXN2, RNA5SP369, 2454 more genes
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