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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5547702copy number variation1nstd206human GRCh38 chr22: 48,274,495-48,278,664 , GRCh37.p13 chr22: 48,670,307-48,674,476 MIR3201
    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
    nsv5287503copy number variation1nstd204human GRCh38.p13 chr22: 47,330,201-48,666,800 , GRCh37.p13 chr22: 47,725,951-49,062,612 , LINC00898, 10 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
    nsv4871517copy number variation1nstd200human GRCh37 chr22: 47,303,248-48,934,346 , GRCh38.p12 chr22: 46,907,352-48,538,534 , EPIC1, 13 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
    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
    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
    nsv4685911copy number variation1nstd102humanPathogenic GRCh38 chr22: 46,269,281-50,740,560 , GRCh37.p13 chr22: 46,665,178-51,178,988 ADM2, PLXNB2, 81 more genes
    nsv4685901copy number variation1nstd102humanPathogenic GRCh38 chr22: 44,245,760-50,806,121 , GRCh37.p13 chr22: 44,641,640-51,203,353 CHKB, TYMP, 141 more genes
    nsv4685899copy number variation1nstd102humanPathogenic GRCh38 chr22: 45,819,932-50,737,806 , GRCh37.p13 chr22: 46,215,812-51,176,234 CHKB-DT, CIMAP1B, 100 more genes
    nsv4685887copy number variation1nstd102humanPathogenic GRCh38 chr22: 46,467,175-50,759,338 , GRCh37.p13 chr22: 46,863,072-51,197,766 RN7SKP252, CHKB-DT, 79 more genes
    nsv4685881copy number variation1nstd102humanPathogenic GRCh38 chr22: 46,489,644-50,806,138 , GRCh37.p13 chr22: 46,885,541-51,203,353 MIR12114, GRAMD4, 79 more genes
    nsv4685866copy number variation1nstd102humanPathogenic GRCh38 chr22: 47,705,262-50,739,836 , GRCh37.p13 chr22: 48,101,011-51,178,264 ADM2, PLXNB2, 65 more genes
    nsv4685771copy number variation1nstd102humanPathogenic GRCh37 chr22: 44,850,001-50,850,001 , GRCh38.p12 chr22: 44,454,121-50,411,572 LOC284933, EPIC1, 112 more genes
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