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Items: 1 to 20 of 410

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112794copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,099,570-51,187,115 , GRCh38.p12 chr22: 49,705,922-50,748,687 SCO2, CIMAP1B, 50 more genes
    nsv5974702inversion1nstd209human GRCh38 chr22: 50,173,095-50,396,313 , GRCh37.p13 chr22: 50,611,524-50,834,742 MAPK11, MAPK12, 11 more genes
    nsv5673438copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,297,466-51,066,227 , GRCh38.p12 chr22: 49,903,818-50,627,799 MIR6821, CHKB, 39 more genes
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5296967copy number variation1nstd204human GRCh38.p13 chr22: 50,267,756-50,276,423 , GRCh37.p13 chr22: 50,706,185-50,714,852 MAPK11, PLXNB2
    nsv5283635copy number variation1nstd204human GRCh38.p13 chr22: 50,181,501-50,588,000 , GRCh37.p13 chr22: 50,619,930-51,026,429 , SYCE3, 29 more genes
    nsv5282897copy number variation1nstd204human GRCh37.p13 chr22: 50,645,630-50,776,229 , GRCh38.p13 chr22: 50,207,201-50,337,800 MAPK11, MAPK12, 7 more genes
    nsv5035208copy number variation1nstd200human GRCh38 chr22: 48,120,092-50,757,227 , GRCh37.p13 chr22: 48,515,909-51,195,655 , CRELD2, 70 more genes
    nsv5030619copy number variation1nstd200human GRCh38 chr22: 49,877,723-50,553,750 , GRCh37.p13 chr22: 50,271,371-50,992,179 , TUBGCP6, 35 more genes
    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
    nsv4685979copy number variation1nstd102humanPathogenic GRCh38 chr22: 48,500,344-50,780,581 , GRCh37.p13 chr22: 48,896,156-51,203,353 ACR, LOC105377205, 62 more genes
    nsv4685978copy number variation1nstd102humanPathogenic GRCh38 chr22: 48,500,337-50,739,785 , GRCh37.p13 chr22: 48,896,149-51,178,213 MIR3667, RPL35P8, 59 more genes
    nsv4685973copy number variation1nstd102humanPathogenic GRCh38 chr22: 45,708,330-50,737,364 , GRCh37.p13 chr22: 46,104,210-51,175,792 PRR34, KLHDC7B, 102 more genes
    nsv4685945copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,032,129-50,739,836 , GRCh37.p13 chr22: 43,428,135-51,178,264 LOC101927474, SHISAL1, 165 more genes
    nsv4685942copy number variation1nstd102humanPathogenic GRCh38 chr22: 47,513,236-50,806,138 , GRCh37.p13 chr22: 47,908,985-51,203,353 ADM2, PLXNB2, 69 more genes
    nsv4685937copy number variation1nstd102humanPathogenic GRCh38 chr22: 43,802,117-50,806,121 , GRCh37.p13 chr22: 44,197,997-51,203,353 CIMAP1B, PNPLA3, 151 more genes
    nsv4685936copy number variation1nstd102humanPathogenic GRCh38 chr22: 49,181,210-50,759,297 , GRCh37.p13 chr22: 49,577,136-51,197,725 RNU6-409P, HDAC10, 55 more genes
    nsv4685917copy number variation1nstd102humanPathogenic GRCh38 chr22: 47,447,433-50,806,138 , GRCh37.p13 chr22: 47,843,182-51,203,353 HDAC10, MIOX, 70 more genes
    nsv4685915copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,702,479-50,806,138 , GRCh37.p13 chr22: 45,098,359-51,203,353 LOC105373066, LOC339685, 130 more genes
    nsv4685913copy number variation1nstd102humanPathogenic GRCh38 chr22: 47,823,120-50,759,410 , GRCh37.p13 chr22: 48,218,869-51,197,838 MAPK11, LOC105373081, 67 more genes
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