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Items: 1 to 20 of 704

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148280copy number variation1nstd102humanPathogenic GRCh38 chr22: 18,985,739-21,081,116 , GRCh37.p13 chr22: 18,973,252-21,435,405 SLC9A3P2, RNU6-225P, 99 more genes
    nsv7148270copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,838-20,508,931 , GRCh38.p12 chr22: 18,483,514-20,345,217 DGCR2, MIR4761, 79 more genes
    nsv7148246copy number variation2nstd102humanPathogenic GRCh37 chr22: 18,893,838-21,416,074 , GRCh38.p12 chr22: 18,339,130-21,061,785 ZDHHC8, FAM230E, 121 more genes
    nsv7148214copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,609,932-21,576,553 , GRCh38.p12 chr22: 18,339,630-21,222,264 IGLL4P, LOC107985584, 129 more genes
    nsv7148166copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,838-20,307,561 , GRCh38.p12 chr22: 18,906,325-20,320,038 MIR6816, PRODH, 61 more genes
    nsv7144755insertion1nstd232human GRCh37.p13 chr22: 19,471,530-19,471,530 , GRCh38.p12 chr22: 19,484,007-19,484,007 CDC45
    nsv7137215copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,916,842-20,311,810 , GRCh38.p12 chr22: 18,929,329-20,324,287 TSSK1A, ESS2, 60 more genes
    nsv7137150copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,888-21,481,925 , GRCh38.p12 chr22: 18,339,130-21,127,636 LOC107985584, LINC00896, 125 more genes
    nsv7098862copy number variation1nstd102humanPathogenic GRCh38 chr22: 18,206,749-21,234,326 , GRCh37.p13 chr22: 18,689,516-21,588,615 GP1BB, IGLL4P, 132 more genes
    nsv7098756copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,886-21,386,103 , GRCh38.p12 chr22: 18,339,130-21,031,814 CCDC188, MED15, 118 more genes
    nsv7095928copy number variation2nstd102humanPathogenic GRCh37 chr22: 17,565,982-20,052,185 , GRCh38.p12 chr22: 17,085,092-20,064,662 CA15P1, BID, 103 more genes
    nsv7093409copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,893,888-21,570,386 , GRCh38.p12 chr22: 18,339,130-21,216,097 FAM247A, P2RX6P, 129 more genes
    nsv7093403copy number variation1nstd102humanPathogenic GRCh37 chr22: 19,184,000-21,416,024 , GRCh38.p12 chr22: 18,339,130-21,061,735 LOC105372862, RPL7AP70, 121 more genes
    nsv7093402copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,894,078-21,414,817 , GRCh38.p12 chr22: 18,339,130-21,060,528 LOC100420103, P2RX6P, 121 more genes
    nsv7093382copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,834,445-21,414,817 , GRCh38.p12 chr22: 18,339,130-21,060,528 DGCR8, SEPTIN5, 121 more genes
    nsv7075430inversion1nstd229human GRCh38 chr22: 18,971,418-20,267,248 , GRCh37.p13 chr22: 18,958,931-20,254,771 LINC00896, LOC105372861, 57 more genes
    nsv7036294copy number variation1nstd229human GRCh38 chr22: 19,478,564-19,478,584 , GRCh37.p13 chr22: 19,466,087-19,466,107 CDC45, UFD1
    nsv7034275copy number variation1nstd229human GRCh38 chr22: 19,500,030-19,503,059 , GRCh37.p13 chr22: 19,487,553-19,490,582 CDC45
    nsv7030913copy number variation1nstd229human GRCh38 chr22: 19,500,801-19,504,600 , GRCh37.p13 chr22: 19,488,324-19,492,123 CDC45
    nsv7030553copy number variation1nstd229human GRCh38 chr22: 19,516,072-19,516,157 , GRCh37.p13 chr22: 19,503,595-19,503,680 CDC45
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