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Items: 1 to 20 of 439

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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
    nsv5956311copy number variation1nstd209human GRCh38 chr22: 50,562,255-50,562,647 , GRCh37.p13 chr22: 51,000,684-51,001,076 LOC107985568, SYCE3
    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
    nsv5664627insertion1nstd207human GRCh38 chr22: 50,562,314-50,562,314 , GRCh37.p13 chr22: 51,000,743-51,000,743 LOC107985568, SYCE3
    nsv5602180copy number variation1nstd207human GRCh38 chr22: 50,562,256-50,562,354 , GRCh37.p13 chr22: 51,000,685-51,000,783 SYCE3, LOC107985568
    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
    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
    nsv5281266copy number variation1nstd204human GRCh38.p13 chr22: 50,508,101-50,600,500 , GRCh37.p13 chr22: 50,946,530-51,038,929 NCAPH2, CHKB, 13 more genes
    nsv5039516copy number variation1nstd200human GRCh38 chr22: 50,552,399-50,554,769 , GRCh37.p13 chr22: 50,990,828-50,993,198 SYCE3
    nsv5038168copy number variation1nstd200human GRCh38 chr22: 50,554,388-50,555,963 , GRCh37.p13 chr22: 50,992,817-50,994,392 SYCE3
    nsv5036107copy number variation1nstd200human GRCh38 chr22: 50,486,769-50,596,549 , GRCh37.p13 chr22: 50,925,198-51,034,978 KLHDC7B-DT, CPT1B, 14 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
    nsv5032006copy number variation1nstd200human GRCh38 chr22: 50,543,299-50,565,955 , GRCh37.p13 chr22: 50,981,728-51,004,384 SYCE3, LOC107985568, 3 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
    nsv4756267insertion1nstd199human GRCh37 chr22: 51,000,636-51,000,636 , GRCh38.p12 chr22: 50,562,207-50,562,207 SYCE3, LOC107985568
    nsv4729985copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,791,825-51,181,078 , GRCh38.p12 chr22: 50,353,396-50,742,650 SCO2, ADM2, 24 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
    nsv4729817copy number variation1nstd102humanUncertain significance GRCh37 chr22: 50,990,475-51,165,799 , GRCh38.p12 chr22: 50,552,046-50,727,371 MAPK8IP2, CHKB-DT, 8 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
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