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Items: 1 to 20 of 169

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096229copy number variation1nstd102humanUncertain significance GRCh37 chr2: 207,652,641-207,656,526 , GRCh38.p12 chr2: 206,787,917-206,791,802 FASTKD2, CPO
    nsv7046247inversion1nstd229human GRCh38 chr2: 206,760,550-206,764,124 , GRCh37.p13 chr2: 207,625,274-207,628,848 MDH1B, FASTKD2
    nsv6689765copy number variation1nstd229human GRCh38 chr2: 206,787,624-206,847,053 , GRCh37.p13 chr2: 207,652,348-207,711,777 FASTKD2, CPO
    nsv6684439copy number variation1nstd229human GRCh38 chr2: 206,787,940-206,788,139 , GRCh37.p13 chr2: 207,652,664-207,652,863 FASTKD2
    nsv6683510copy number variation1nstd229human GRCh38 chr2: 206,534,682-206,800,910 , GRCh37.p13 chr2: 207,399,406-207,665,634 MIR3130-1, CPO, 7 more genes
    nsv6681837copy number variation1nstd229human GRCh38 chr2: 206,795,066-206,799,462 , GRCh37.p13 chr2: 207,659,790-207,664,186 FASTKD2, CPO
    nsv6680436copy number variation1nstd229human GRCh38 chr2: 206,771,093-206,981,694 , GRCh37.p13 chr2: 207,635,817-207,846,418 MIR3130-2, FASTKD2, 2 more genes
    nsv6680337copy number variation1nstd229human GRCh38 chr2: 206,757,282-206,765,872 , GRCh37.p13 chr2: 207,622,006-207,630,596 FASTKD2, MDH1B
    nsv6679643copy number variation1nstd229human GRCh38 chr2: 206,771,766-206,771,989 , GRCh37.p13 chr2: 207,636,490-207,636,713 FASTKD2
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6354339copy number variation1nstd223human GRCh38 chr2: 206,796,501-206,803,000 , GRCh37.p13 chr2: 207,661,225-207,667,724 FASTKD2, CPO
    nsv6353460copy number variation1nstd223human GRCh38 chr2: 206,773,501-206,774,800 , GRCh37.p13 chr2: 207,638,225-207,639,524 FASTKD2
    nsv6353076copy number variation1nstd223human GRCh38 chr2: 206,768,883-206,769,951 , GRCh37.p13 chr2: 207,633,607-207,634,675 FASTKD2
    nsv6345022copy number variation1nstd223human GRCh38 chr2: 206,375,924-207,087,017 , GRCh37.p13 chr2: 207,240,648-207,951,741 HNRNPA1P51, KLF7, 10 more genes
    nsv6344151copy number variation1nstd223human GRCh38 chr2: 206,787,624-206,847,050 , GRCh37.p13 chr2: 207,652,348-207,711,774 FASTKD2, CPO
    nsv6339767copy number variation1nstd223human GRCh38 chr2: 206,795,066-206,799,462 , GRCh37.p13 chr2: 207,659,790-207,664,186 CPO, FASTKD2
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 RN7SKP200, PIMREGP1, 179 more genes
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