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Items: 1 to 20 of 92

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5667377insertion1nstd207human GRCh38 chr22: 38,783,336-38,783,336 , GRCh37.p13 chr22: 39,179,341-39,179,341 DNAL4
    nsv5553601insertion1nstd206human GRCh38 chr22: 38,786,586-38,786,624 , GRCh37.p13 chr22: 39,182,591-39,182,629 DNAL4
    nsv5326903copy number variation1nstd204human GRCh38.p13 chr22: 38,792,395-38,803,345 , GRCh37.p13 chr22: 39,188,400-39,199,350 DNAL4
    nsv5326324copy number variation1nstd204human GRCh38.p13 chr22: 38,791,845-38,791,996 , GRCh37.p13 chr22: 39,187,850-39,188,001 DNAL4
    nsv5298475copy number variation1nstd204human GRCh38.p13 chr22: 38,792,551-38,793,850 , GRCh37.p13 chr22: 39,188,556-39,189,855 DNAL4
    nsv5295091copy number variation1nstd204human GRCh38.p13 chr22: 38,793,708-38,802,155 , GRCh37.p13 chr22: 39,189,713-39,198,160 DNAL4
    nsv5161433mobile element insertion1nstd203human GRCh38 chr22: 38,786,573-38,786,586 , GRCh37.p13 chr22: 39,182,578-39,182,591 DNAL4
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4562691insertion1nstd166human GRCh37.p13 chr22: 39,182,578-39,182,578 , GRCh38.p12 chr22: 38,786,573-38,786,573 DNAL4
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4436801copy number variation1nstd102humanUncertain significance GRCh37 chr22: 38,838,246-39,260,032 , GRCh38.p12 chr22: 38,442,241-38,864,027 FAM227A, CBY1, 14 more genes
    nsv3923140copy number variation1nstd102humanUncertain significance NCBI36 chr22: 37,422,729-37,624,337 , GRCh37 chr22: 39,092,783-39,294,391 , GRCh38 chr22: 38,696,778-38,898,386 PRDX3P1, JOSD1, 6 more genes
    nsv3922654copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,721,797-40,860,953 , GRCh37 chr22: 38,117,804-41,256,957 , NCBI36 chr22: 36,447,750-39,586,903 RPS29P31, UQCRFS1P1, 103 more genes
    nsv3922128copy number variation1nstd102humanPathogenic GRCh37 chr22: 35,729,986-39,296,182 , NCBI36 chr22: 34,059,986-37,626,128 , GRCh38 chr22: 35,333,993-38,900,177 LOC102724378, CARD10, 120 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
    nsv3919085copy number variation1nstd102humanPathogenic NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138 IGLV2-28, LINC01310, 1023 more genes
    nsv3915039copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,447,222-39,103,680 , GRCh37 chr22: 37,843,259-39,499,685 , NCBI36 chr22: 36,173,205-37,829,631 MIR4534, SLC16A8, 68 more genes
    nsv3913775copy number variation1nstd102humanPathogenic NCBI36 chr22: 15,777,498-49,525,130 , GRCh38 chr22: 16,916,608-50,739,836 , GRCh37 chr22: 17,397,498-51,178,264 ZNF280A, RFPL1S, 1059 more genes
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