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Items: 1 to 20 of 1179

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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
    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
    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
    nsv7098940copy number variation1nstd102humanUncertain significance GRCh38 chr22: 20,354,589-21,405,291 , GRCh37.p13 chr22: 20,708,879-21,759,580 FAM230B, POM121L7P, 52 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
    nsv7093440copy number variation1nstd102humannot provided GRCh37 chr22: 21,119,379-21,443,283 , GRCh38.p12 chr22: 20,765,091-21,088,994 LZTR1, THAP7-AS1, 15 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
    nsv7071476inversion1nstd229human GRCh38 chr22: 20,281,958-20,969,535 , GRCh37.p13 chr22: 20,269,481-21,323,823 PRODHLP, RN7SL812P, 29 more genes
    nsv7037740copy number variation1nstd229human GRCh38 chr22: 20,768,467-20,772,380 , GRCh37.p13 chr22: 21,122,755-21,126,668 SERPIND1, PI4KA
    nsv7037518copy number variation1nstd229human GRCh38 chr22: 20,688,140-21,128,714 , GRCh37.p13 chr22: 21,042,428-21,483,003 SERPIND1, SLC7A4, 21 more genes
    nsv7035243copy number variation1nstd229human GRCh38 chr22: 20,741,899-20,742,020 , GRCh37.p13 chr22: 21,096,187-21,096,308 PI4KA
    nsv7031660copy number variation1nstd229human GRCh38 chr22: 20,766,301-20,778,600 , GRCh37.p13 chr22: 21,120,589-21,132,888 PI4KA, SERPIND1
    nsv7030089copy number variation1nstd229human GRCh38 chr22: 20,761,764-20,761,832 , GRCh37.p13 chr22: 21,116,052-21,116,120 PI4KA
    nsv7029884copy number variation1nstd229human GRCh38 chr22: 20,664,898-20,785,911 , GRCh37.p13 chr22: 21,019,186-21,140,199 PI4KA, LOC107985584, 5 more genes
    nsv7027761copy number variation1nstd229human GRCh38 chr22: 20,841,488-20,845,422 , GRCh37.p13 chr22: 21,195,776-21,199,710 PI4KA
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