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Items: 1 to 20 of 324

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099264copy number variation1nstd231human GRCh38.p12 chr1: 222,151,895-226,849,338 , GRCh37 chr1: 222,325,237-227,037,039 PARP1, CAPN2, 99 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7057879inversion1nstd229human GRCh38 chr1: 226,695,834-226,701,239 , GRCh37.p13 chr1: 226,883,535-226,888,940 ITPKB
    nsv7055210inversion1nstd229human GRCh38 chr1: 226,689,172-226,696,021 , GRCh37.p13 chr1: 226,876,873-226,883,722 ITPKB
    nsv7050730inversion1nstd229human GRCh38 chr1: 226,708,149-226,708,196 , GRCh37.p13 chr1: 226,895,850-226,895,897 ITPKB
    nsv7044931inversion1nstd229human GRCh38 chr1: 226,628,626-226,630,748 , GRCh37.p13 chr1: 226,816,327-226,818,449 ITPKB
    nsv6674614copy number variation1nstd229human GRCh38 chr1: 226,726,719-226,732,892 , GRCh37.p13 chr1: 226,914,420-226,920,593 ITPKB
    nsv6671183copy number variation1nstd229human GRCh38 chr1: 226,691,848-226,695,835 , GRCh37.p13 chr1: 226,879,549-226,883,536 ITPKB
    nsv6667879copy number variation1nstd229human GRCh38 chr1: 226,665,497-226,667,967 , GRCh37.p13 chr1: 226,853,198-226,855,668 ITPKB-IT1, ITPKB
    nsv6663970copy number variation1nstd229human GRCh38 chr1: 226,682,176-226,686,605 , GRCh37.p13 chr1: 226,869,877-226,874,306 ITPKB
    nsv6662764copy number variation1nstd229human GRCh38 chr1: 226,655,876-226,657,863 , GRCh37.p13 chr1: 226,843,577-226,845,564 ITPKB, ITPKB-IT1
    nsv6662328copy number variation1nstd229human GRCh38 chr1: 226,681,352-226,694,033 , GRCh37.p13 chr1: 226,869,053-226,881,734 ITPKB
    nsv6659623copy number variation1nstd229human GRCh38 chr1: 226,681,201-226,695,900 , GRCh37.p13 chr1: 226,868,902-226,883,601 ITPKB
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6554141inversion1nstd223human GRCh38 chr1: 226,721,172-226,721,585 , GRCh37.p13 chr1: 226,908,873-226,909,286 ITPKB
    nsv6541038inversion1nstd223human GRCh38 chr1: 226,669,142-226,669,947 , GRCh37.p13 chr1: 226,856,843-226,857,648 ITPKB-IT1, ITPKB
    nsv6335355copy number variation1nstd223human GRCh38 chr1: 226,649,083-226,651,229 , GRCh37.p13 chr1: 226,836,784-226,838,930 ITPKB
    nsv6329354copy number variation1nstd223human GRCh38 chr1: 226,707,847-226,711,900 , GRCh37.p13 chr1: 226,895,548-226,899,601 ITPKB
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