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Items: 1 to 20 of 280

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6114629copy number variation1nstd186human GRCh37 chr22: 42,519,569-42,536,111 , GRCh38.p12 chr22|NT_187682.1: 45,908-62,450 , CYP2D7, 4 more genes
    nsv5960695copy number variation1nstd209human GRCh38 chr22: 42,102,792-42,103,101 , GRCh37.p13 chr22: 42,498,796-42,499,105 NDUFA6-DT
    nsv5955528copy number variation1nstd209human GRCh38 chr22: 42,114,759-42,114,814 , GRCh37.p13 chr22: 42,510,763-42,510,818 NDUFA6-DT
    nsv5954144copy number variation1nstd209human GRCh38 chr22: 42,121,553-42,132,728 , GRCh37.p13 chr22: 42,518,517-42,528,735 , CYP2D6, 2 more genes
    nsv5871510copy number variation1nstd209human GRCh38 chr22: 42,121,357-42,123,056 , GRCh37.p13 chr22: 42,517,361-42,518,516 , NDUFA6-DT
    nsv5673276copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,440,000-43,780,000 , GRCh38.p12 chr22: 42,043,996-43,383,994 RPL5P34, ARFGAP3, 48 more genes
    nsv5667212insertion1nstd207human GRCh38 chr22: 42,112,801-42,112,801 , GRCh37.p13 chr22: 42,508,805-42,508,805 NDUFA6-DT
    nsv5666385insertion1nstd207human GRCh38 chr22: 42,112,683-42,112,683 , GRCh37.p13 chr22: 42,508,687-42,508,687 NDUFA6-DT
    nsv5597542copy number variation1nstd207human GRCh38 chr22: 42,112,579-42,112,637 , GRCh37.p13 chr22: 42,508,583-42,508,641 NDUFA6-DT
    nsv5592566copy number variation1nstd207human GRCh38 chr22: 42,114,759-42,114,814 , GRCh37.p13 chr22: 42,510,763-42,510,818 NDUFA6-DT
    nsv5544012copy number variation1nstd206human GRCh38 chr22: 42,117,871-42,120,653 , GRCh37.p13 chr22: 42,513,875-42,516,657 , NDUFA6-DT
    nsv5541206copy number variation1nstd206human GRCh38 chr22: 42,102,785-42,103,083 , GRCh37.p13 chr22: 42,498,789-42,499,087 NDUFA6-DT
    nsv5537523copy number variation1nstd206human GRCh38 chr22: 42,113,500-42,120,000 , GRCh37.p13 chr22: 42,509,504-42,516,004 NDUFA6-DT
    nsv5535498copy number variation1nstd206human GRCh38 chr22: 42,092,651-42,092,756 , GRCh37.p13 chr22: 42,488,655-42,488,760 NDUFA6-DT
    nsv5415756copy number variation1nstd206human GRCh38 chr22: 42,123,564-42,140,100 , GRCh37.p13 chr22: 42,519,569-42,536,111 , CYP2D7, 4 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
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5360604translocation1nstd200human GRCh38 chr22: 42,121,553-42,121,553 , GRCh38 chr22: 42,132,729-42,132,729 , GRCh37.p13 chr22: 42,528,736-42,528,736 , GRCh37.p13 chr22: 42,517,557-42,517,557 , NDUFA6-DT
    nsv5326964copy number variation1nstd204human GRCh38.p13 chr22: 42,113,630-42,119,696 , GRCh37.p13 chr22: 42,509,634-42,515,700 NDUFA6-DT
    nsv5294163copy number variation1nstd204human GRCh38.p13 chr22: 41,962,701-42,147,200 , GRCh37.p13 chr22: 42,358,705-42,518,516 , SNORD13P1, 15 more genes
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