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Items: 1 to 20 of 468

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6112812copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,200,008 , GRCh38.p12 chr16: 29,663,729-30,188,687 INO80E, QPRT, 33 more genes
    nsv6112806copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,221 , GRCh38.p12 chr16: 29,663,729-30,206,900 YPEL3-DT, PAGR1, 38 more genes
    nsv6112788copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,615,859-30,199,454 , GRCh38.p12 chr16: 29,604,538-30,188,133 ALDOA, MVP, 36 more genes
    nsv5980454copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,545,794-30,307,472 , GRCh38.p12 chr16: 29,534,473-30,296,151 LOC105371167, MIR3680-2, 46 more genes
    nsv5938679copy number variation1nstd209human GRCh38 chr16: 29,576,286-30,317,646 , GRCh37.p13 chr16: 29,587,607-30,328,967 , BOLA2B, 47 more genes
    nsv5712771mobile element insertion2nstd211human GRCh38 chr16: 29,815,109-29,815,109 , GRCh37.p13 chr16: 29,826,430-29,826,430 PRRT2, PAGR1
    nsv5672756copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,044-30,212,202 , GRCh38.p12 chr16: 29,663,723-30,200,881 ALDOA, QPRT, 37 more genes
    nsv5564226copy number variation7nstd102humanPathogenic, Uncertain significance GRCh37 chr16: 29,802,081-30,199,917 , GRCh38.p12 chr16: 29,790,760-30,188,596 MAPK3, MAZ, 27 more genes
    nsv5519942copy number variation1nstd206human GRCh38 chr16: 29,446,486-30,285,000 , GRCh37.p13 chr16: 29,457,807-30,296,321 , CA5AP1, 57 more genes
    nsv5421431mobile element insertion1nstd206human GRCh38 chr16: 29,815,109-29,815,160 , GRCh37.p13 chr16: 29,826,430-29,826,481 PRRT2, PAGR1
    nsv5381791copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,824,309-29,825,959 , GRCh38.p12 chr16: 29,812,988-29,814,638 PAGR1, PRRT2
    nsv5380931copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr16: 29,802,081-30,200,285 , GRCh38.p12 chr16: 29,790,760-30,188,964 CDIPTOSP, MAZ, 27 more genes
    nsv5367440translocation1nstd200human GRCh38 chr16: 29,811,172-29,811,172 , GRCh38 chr4: 34,607,817-34,607,817 , GRCh37.p13 chr16: 29,822,493-29,822,493 , GRCh37.p13 chr4: 34,609,439-34,609,439 MAZ, PRRT2, 1 more genes
    nsv5278899copy number variation1nstd204human GRCh37.p13 chr16: 29,780,571-29,822,856 , GRCh38.p13 chr16: 29,769,250-29,811,535 , KIF22, 5 more genes
    nsv5266944copy number variation1nstd204human GRCh38.p13 chr16: 29,812,431-29,814,465 , GRCh37.p13 chr16: 29,823,752-29,825,786 PAGR1, PRRT2, 1 more genes
    nsv5200388copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,652,999-30,198,600 , GRCh38.p12 chr16: 29,641,678-30,187,279 PAGR1, MVP, 33 more genes
    nsv5200382copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,673,954-30,198,600 , GRCh38.p12 chr16: 29,662,633-30,187,279 TMEM219, INO80E, 33 more genes
    nsv5060036copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,443,322-30,320,321 , GRCh38.p12 chr16: 29,432,001-30,309,000 CORO1A, PRRT2, 55 more genes
    nsv5040420inversion1nstd200human GRCh38 chr16: 29,736,418-31,610,189 , GRCh37.p13 chr16: 29,747,739-31,621,510 , ZNF668, 119 more genes
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