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Items: 1 to 20 of 220

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6121931copy number variation1nstd186human GRCh37 chr12: 124,457,728-124,458,430 , GRCh38.p12 chr12: 123,973,181-123,973,883 CCDC92, ZNF664, 1 more genes
    nsv5947481copy number variation1nstd209human GRCh38 chr12: 124,008,814-124,008,877 , GRCh37.p13 chr12: 124,493,361-124,493,424 ZNF664-RFLNA, ZNF664
    nsv5942956copy number variation1nstd209human GRCh38 chr12: 123,974,017-124,011,376 , GRCh37.p13 chr12: 124,458,564-124,495,923 ZNF664, ZNF664-RFLNA
    nsv5938378copy number variation1nstd209human GRCh38 chr12: 124,011,439-124,011,542 , GRCh37.p13 chr12: 124,495,986-124,496,089 ZNF664-RFLNA, ZNF664
    nsv5935538copy number variation1nstd209human GRCh38 chr12: 123,973,301-123,973,882 , GRCh37.p13 chr12: 124,457,848-124,458,429 CCDC92, ZNF664, 1 more genes
    nsv5849421copy number variation1nstd209human GRCh38 chr12: 124,011,354-124,014,953 , GRCh37.p13 chr12: 124,495,901-124,499,500 ZNF664-RFLNA, ZNF664
    nsv5702697mobile element insertion1nstd211human GRCh38 chr12: 123,990,415-123,990,415 , GRCh37.p13 chr12: 124,474,962-124,474,962 ZNF664, ZNF664-RFLNA
    nsv5507803copy number variation1nstd206human GRCh38 chr12: 123,973,181-123,973,883 , GRCh37.p13 chr12: 124,457,728-124,458,430 CCDC92, ZNF664-RFLNA, 1 more genes
    nsv5496259copy number variation1nstd206human GRCh38 chr12: 124,008,818-124,008,878 , GRCh37.p13 chr12: 124,493,365-124,493,425 ZNF664-RFLNA, ZNF664
    nsv5433163mobile element insertion1nstd206human GRCh38 chr12: 123,990,415-123,990,461 , GRCh37.p13 chr12: 124,474,962-124,475,008 ZNF664, ZNF664-RFLNA
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 DDX55, ZNF664, 55 more genes
    nsv5379865translocation1nstd200human GRCh38 chr2: 3,884,061-3,884,061 , GRCh38 chr12: 124,015,427-124,015,427 , GRCh37.p13 chr2: 3,931,651-3,931,651 , GRCh37.p13 chr12: 124,499,974-124,499,974 ZNF664-RFLNA, ZNF664
    nsv5374563translocation1nstd200human GRCh38 chr12: 123,973,109-123,973,109 , GRCh38 chr2: 3,884,045-3,884,045 , GRCh37.p13 chr12: 124,457,656-124,457,656 , GRCh37.p13 chr2: 3,931,635-3,931,635 CCDC92, ZNF664, 1 more genes
    nsv5365259translocation1nstd200human GRCh38 chr12: 123,974,020-123,974,020 , GRCh38 chr12: 124,011,377-124,011,377 , GRCh37.p13 chr12: 124,495,924-124,495,924 , GRCh37.p13 chr12: 124,458,567-124,458,567 ZNF664, ZNF664-RFLNA
    nsv5356488translocation1nstd200human GRCh38 chr12: 124,008,878-124,008,878 , GRCh38 chr12: 124,008,818-124,008,818 , GRCh37.p13 chr12: 124,493,425-124,493,425 , GRCh37.p13 chr12: 124,493,365-124,493,365 ZNF664, ZNF664-RFLNA
    nsv5275692copy number variation1nstd204human GRCh38.p13 chr12: 124,010,401-124,015,400 , GRCh37.p13 chr12: 124,494,948-124,499,947 ZNF664, ZNF664-RFLNA
    nsv5273488copy number variation1nstd204human GRCh38.p13 chr12: 124,011,001-124,018,800 , GRCh37.p13 chr12: 124,495,548-124,503,347 ZNF664-RFLNA, ZNF664
    nsv5261497copy number variation1nstd204human GRCh38.p13 chr12: 124,011,354-124,015,253 , GRCh37.p13 chr12: 124,495,901-124,499,800 ZNF664-RFLNA, ZNF664
    nsv5180702mobile element insertion1nstd203human GRCh38 chr12: 123,983,330-123,983,343 , GRCh37.p13 chr12: 124,467,877-124,467,890 ZNF664, ZNF664-RFLNA
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
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