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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5953146copy number variation1nstd209human GRCh38 chr22: 30,288,284-30,288,636 , GRCh37.p13 chr22: 30,684,273-30,684,625 CASTOR1
    nsv5590450copy number variation1nstd207human GRCh38 chr22: 30,288,284-30,288,636 , GRCh37.p13 chr22: 30,684,273-30,684,625 CASTOR1
    nsv5360491translocation1nstd200human GRCh38 chr22: 30,288,637-30,288,637 , GRCh38 chr22: 30,288,284-30,288,284 , GRCh37.p13 chr22: 30,684,273-30,684,273 , GRCh37.p13 chr22: 30,684,626-30,684,626 CASTOR1
    nsv5337233translocation1nstd200human GRCh37 chr22: 30,684,626-30,684,626 , GRCh37 chr22: 30,684,273-30,684,273 , GRCh38.p12 chr22: 30,288,284-30,288,284 , GRCh38.p12 chr22: 30,288,637-30,288,637 CASTOR1
    nsv5327408copy number variation1nstd204human GRCh38.p13 chr22: 30,288,261-30,288,658 , GRCh37.p13 chr22: 30,684,250-30,684,647 CASTOR1
    nsv5033591copy number variation1nstd200human GRCh38 chr22: 30,282,552-30,284,810 , GRCh37.p13 chr22: 30,678,541-30,680,799 CASTOR1
    nsv4884502copy number variation1nstd200human GRCh37 chr22: 30,678,540-30,680,799 , GRCh38.p12 chr22: 30,282,551-30,284,810 CASTOR1
    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
    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
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 more genes
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
    nsv4316382inversion1nstd166human GRCh37.p13 chr22: 22,466,414-30,881,792 , GRCh38.p12 chr22: 22,112,004-30,485,805 , CRYBB2, 313 more genes
    nsv4287990copy number variation1nstd166human GRCh37.p13 chr22: 30,667,005-30,900,811 , GRCh38.p12 chr22: 30,271,016-30,504,824 , SEC14L3, 15 more genes
    nsv4272926copy number variation1nstd166human GRCh37.p13 chr22: 30,684,187-30,684,626 , GRCh38.p12 chr22: 30,288,198-30,288,637 CASTOR1
    nsv3923205copy number variation1nstd102humanPathogenic NCBI36 chr22: 25,177,008-30,177,912 , GRCh37 chr22: 26,847,008-31,847,912 , GRCh38 chr22: 26,451,042-31,451,926 DRG1, THOC5, 138 more genes
    nsv3922708copy number variation1nstd102humanPathogenic GRCh38 chr22: 23,279,231-36,247,369 , GRCh37 chr22: 23,621,418-36,643,415 , NCBI36 chr22: 21,951,418-34,973,361 DRICH1, MMP11, 316 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
    nsv3919429copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,661,724-32,217,179 , GRCh38 chr22: 18,178,957-31,821,193 , NCBI36 chr22: 17,041,724-30,547,179 PCAT14, MIR3199-1, 533 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
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