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Items: 1 to 20 of 237

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6127540copy number variation1nstd186human GRCh37 chr19: 48,334,868-48,335,554 , GRCh38.p12 chr19: 47,831,611-47,832,297 CRX
    nsv5935914copy number variation1nstd209human GRCh38 chr19: 47,831,930-47,832,296 , GRCh37.p13 chr19: 48,335,187-48,335,553 CRX
    nsv5707219mobile element insertion1nstd211human GRCh38 chr19: 47,833,050-47,833,050 , GRCh37.p13 chr19: 48,336,307-48,336,307 CRX
    nsv5672909copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,339,500-48,343,224 , GRCh38.p12 chr19: 47,836,243-47,839,967 CRX
    nsv5592750copy number variation1nstd207human GRCh38 chr19: 47,831,930-47,832,296 , GRCh37.p13 chr19: 48,335,187-48,335,553 CRX
    nsv5564235copy number variation1nstd102humanUncertain significance GRCh37 chr19: 48,342,557-48,343,224 , GRCh38.p12 chr19: 47,839,300-47,839,967 CRX
    nsv5560957inversion1nstd206human GRCh38 chr19: 47,804,710-47,859,075 , GRCh37.p13 chr19: 48,307,967-48,362,332 CRX, TPRX2
    nsv5514498copy number variation1nstd206human GRCh38 chr19: 47,831,611-47,832,297 , GRCh37.p13 chr19: 48,334,868-48,335,554 CRX
    nsv5391724copy number variation1nstd186human GRCh37 chr19: 48,335,216-48,335,554 , GRCh38.p12 chr19: 47,831,959-47,832,297 CRX
    nsv5389806copy number variation1nstd186human GRCh37 chr19: 48,335,263-48,335,554 , GRCh38.p12 chr19: 47,832,006-47,832,297 CRX
    nsv5381197copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,337,701-48,343,224 , GRCh38.p12 chr19: 47,834,444-47,839,967 CRX
    nsv5327168copy number variation1nstd204human GRCh38.p13 chr19: 47,831,976-47,832,283 , GRCh37.p13 chr19: 48,335,233-48,335,540 CRX
    nsv5288647copy number variation1nstd204human GRCh38.p13 chr19: 47,782,441-47,836,747 , GRCh37.p13 chr19: 48,285,698-48,340,004 TPRX1, SELENOW, 2 more genes
    nsv5176422mobile element insertion1nstd203human GRCh38 chr19: 47,830,217-47,830,217 , GRCh37.p13 chr19: 48,333,474-48,333,474 CRX
    nsv5020863copy number variation1nstd200human GRCh38 chr19: 47,831,946-47,832,337 , GRCh37.p13 chr19: 48,335,203-48,335,594 CRX
    nsv5020862copy number variation1nstd200human GRCh38 chr19: 47,824,372-47,824,504 , GRCh37.p13 chr19: 48,327,629-48,327,761 CRX
    nsv5020861copy number variation1nstd200human GRCh38 chr19: 47,823,481-47,825,889 , GRCh37.p13 chr19: 48,326,738-48,329,146 CRX
    nsv4853219copy number variation1nstd200human GRCh37 chr19: 48,335,136-48,335,656 , GRCh38.p12 chr19: 47,831,879-47,832,399 CRX
    nsv4853218copy number variation1nstd200human GRCh37 chr19: 48,327,629-48,327,761 , GRCh38.p12 chr19: 47,824,372-47,824,504 CRX
    nsv4732598copy number variation1nstd199human GRCh37 chr19: 48,334,359-48,334,487 , GRCh38.p12 chr19: 47,831,102-47,831,230 CRX
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