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Items: 17

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    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096962copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,820,829-53,845,433 , GRCh38.p12 chr3: 53,786,802-53,811,406 CHDH, CACNA1D
    nsv7097207copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,529,194-53,845,433 , GRCh38.p12 chr3: 53,495,167-53,811,406 CHDH, CACNA1D
    nsv7097208copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,736,648-53,845,433 , GRCh38.p12 chr3: 53,702,621-53,811,406 CHDH, CACNA1D
    nsv3877559copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,831,630-53,857,351 , GRCh38.p12 chr3: 53,797,603-53,823,324 CHDH, CACNA1D
    nsv3915458copy number variation1nstd102humanUncertain significance NCBI36 chr3: 53,554,815-53,856,962 , GRCh37.p13 chr3: 53,579,775-53,881,922 , GRCh38.p12 chr3: 53,545,748-53,847,895 CHDH, IL17RB, 1 more genes
    nsv3923072copy number variation1nstd102humanUncertain significance NCBI36 chr3: 53,708,932-53,899,888 , GRCh37.p13 chr3: 53,733,892-53,924,848 , GRCh38.p12 chr3: 53,699,865-53,890,821 CHDH, ACTR8, 3 more genes
    nsv3875047copy number variation1nstd102humanPathogenic GRCh37 chr3: 52,086,599-59,689,209 , GRCh38.p12 chr3: 52,052,583-59,703,483 CHDH, SLMAP, 132 more genes
    nsv3912778copy number variation1nstd102humanPathogenic GRCh37 chr3: 49,498,433-55,348,528 , GRCh38 chr3: 49,461,000-55,314,500 , NCBI36 chr3: 49,473,437-55,323,568 CHDH, SEMA3G, 160 more genes
    nsv3885606copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156 CHDH, RNU4-62P, 2880 more genes
    nsv3889228copy number variation2nstd102humanPathogenic GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115 CHDH, NDUFB4, 2876 more genes
    nsv3880617copy number variation1nstd102humanPathogenic GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391 CHDH, RPL23AP49, 2875 more genes
    nsv4347762copy number variation1nstd102humanPathogenic GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589 CHDH, UQCRC1, 291 more genes
    nsv3917135copy number variation1nstd102humanLikely pathogenic NCBI36 chr3: 51,406,905-55,073,516 , GRCh37 chr3: 51,431,865-55,098,476 , GRCh38 chr3: 51,394,434-55,064,449 CHDH, ACY1, 96 more genes
    nsv3923258copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,321,495-57,059,396 , NCBI36 chr3: 53,296,535-57,034,436 , GRCh38 chr3: 53,287,477-57,025,368 CHDH, CACNA1D, 30 more genes
    nsv7096813copy number variation1nstd102humanUncertain significance GRCh37 chr3: 52,018,081-53,845,433 , GRCh38.p12 chr3: 51,984,065-53,811,406 CHDH, DNAH1, 62 more genes
    nsv4450136copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,413,246-53,955,646 , GRCh38.p12 chr3: 53,379,219-53,921,619 CHDH, ACTR8, 4 more genes
    nsv3916568copy number variation1nstd102humanUncertain significance NCBI36 chr3: 53,842,231-54,151,958 , GRCh37.p13 chr3: 53,867,191-54,176,918 , GRCh38.p12 chr3: 53,833,164-54,142,891 CHDH, CACNA2D3, 5 more genes
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