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Items: 1 to 20 of 320

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112709copy number variation1nstd102humanPathogenic GRCh37 chr3: 123,000,000-129,700,000 , GRCh38.p12 chr3: 123,281,153-129,981,157 OR7E97P, MARK3P3, 160 more genes
    nsv6112688copy number variation1nstd102humanPathogenic GRCh37 chr3: 120,154,188-128,324,987 , GRCh38.p12 chr3: 120,435,341-128,606,144 RNU4-62P, MTCO1P29, 169 more genes
    nsv5957317insertion1nstd209human GRCh38 chr3: 128,140,299-128,140,299 , GRCh37.p13 chr3: 127,859,142-127,859,142 RNU6-823P, RUVBL1
    nsv5951415insertion1nstd209human GRCh38 chr3: 128,150,945-128,150,945 , GRCh37.p13 chr3: 127,869,788-127,869,788 RUVBL1
    nsv5906088copy number variation1nstd209human GRCh38 chr3: 128,150,728-128,150,880 , GRCh37.p13 chr3: 127,869,571-127,869,723 RUVBL1
    nsv5689680mobile element insertion1nstd211human GRCh38 chr3: 128,093,739-128,093,739 , GRCh37.p13 chr3: 127,812,582-127,812,582 RUVBL1
    nsv5682348mobile element insertion1nstd211human GRCh38 chr3: 128,134,954-128,134,954 , GRCh37.p13 chr3: 127,853,797-127,853,797 RUVBL1
    nsv5675004mobile element insertion2nstd211human GRCh38 chr3: 128,118,256-128,118,256 , GRCh37.p13 chr3: 127,837,099-127,837,099 RUVBL1
    nsv5622205insertion1nstd207human GRCh38 chr3: 128,152,937-128,152,937 , GRCh37.p13 chr3: 127,871,780-127,871,780 RUVBL1, EEFSEC
    nsv5618385insertion1nstd207human GRCh38 chr3: 128,150,884-128,150,884 , GRCh37.p13 chr3: 127,869,727-127,869,727 RUVBL1
    nsv5615911insertion1nstd207human GRCh38 chr3: 128,118,241-128,118,241 , GRCh37.p13 chr3: 127,837,084-127,837,084 RUVBL1
    nsv5614490insertion1nstd207human GRCh38 chr3: 128,140,299-128,140,299 , GRCh37.p13 chr3: 127,859,142-127,859,142 RUVBL1, RNU6-823P
    nsv5543870insertion1nstd206human GRCh38 chr3: 128,140,299-128,140,299 , GRCh37.p13 chr3: 127,859,142-127,859,142 RNU6-823P, RUVBL1
    nsv5434797copy number variation1nstd206human GRCh38 chr3: 128,118,680-128,118,785 , GRCh37.p13 chr3: 127,837,523-127,837,628 RUVBL1
    nsv5407925mobile element insertion1nstd206human GRCh38 chr3: 128,093,739-128,093,790 , GRCh37.p13 chr3: 127,812,582-127,812,633 RUVBL1
    nsv5404792mobile element insertion1nstd206human GRCh38 chr3: 128,118,256-128,118,307 , GRCh37.p13 chr3: 127,837,099-127,837,150 RUVBL1
    nsv5404653mobile element insertion1nstd206human GRCh38 chr3: 128,134,954-128,135,005 , GRCh37.p13 chr3: 127,853,797-127,853,848 RUVBL1
    nsv5361911translocation1nstd200human GRCh38 chr3: 128,122,937-128,122,937 , GRCh38 chr5: 80,607,717-80,607,717 , GRCh37.p13 chr3: 127,841,780-127,841,780 , GRCh37.p13 chr5: 79,903,536-79,903,536 RUVBL1, LINC01337
    nsv5346510translocation1nstd200human GRCh38 chr3: 128,077,032-128,077,032 , GRCh38 chr3: 128,077,138-128,077,138 , GRCh37.p13 chr3: 127,795,981-127,795,981 , GRCh37.p13 chr3: 127,795,875-127,795,875 RUVBL1-AS1, RUVBL1
    nsv5301929copy number variation1nstd204human GRCh37.p13 chr3: 127,792,819-127,794,865 , GRCh38.p13 chr3: 128,073,976-128,076,022 RUVBL1, RUVBL1-AS1, 1 more genes
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