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Items: 1 to 20 of 239

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148223copy number variation1nstd102humanPathogenic GRCh38 chr1: 61,077,177-62,865,614 , GRCh37.p13 chr1: 61,542,849-63,331,285 RPL13AP9, LOC105378768, 24 more genes
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7049431inversion1nstd229human GRCh38 chr1: 61,695,160-61,700,821 , GRCh37.p13 chr1: 62,160,832-62,166,493 TM2D1
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6652866copy number variation1nstd229human GRCh38 chr1: 61,714,519-61,717,972 , GRCh37.p13 chr1: 62,180,191-62,183,644 TM2D1
    nsv6652109copy number variation1nstd229human GRCh38 chr1: 61,695,901-61,780,500 , GRCh37.p13 chr1: 62,161,573-62,246,172 TM2D1, PATJ
    nsv6636980copy number variation1nstd102humanUncertain significance GRCh37 chr1: 61,699,735-62,380,298 , GRCh38.p12 chr1: 61,234,063-61,914,626 LOC105378766, NFIA-AS1, 8 more genes
    nsv6555098inversion1nstd223human GRCh38 chr1: 61,701,918-61,702,620 , GRCh37.p13 chr1: 62,167,590-62,168,292 TM2D1
    nsv6550875inversion1nstd223human GRCh38 chr1: 61,719,694-61,721,447 , GRCh37.p13 chr1: 62,185,366-62,187,119 TM2D1
    nsv6550693inversion1nstd223human GRCh38 chr1: 61,702,580-61,702,963 , GRCh37.p13 chr1: 62,168,252-62,168,635 TM2D1
    nsv6550613inversion1nstd223human GRCh38 chr1: 61,703,116-61,703,672 , GRCh37.p13 chr1: 62,168,788-62,169,344 TM2D1
    nsv6549715inversion1nstd223human GRCh38 chr1: 61,712,572-61,719,589 , GRCh37.p13 chr1: 62,178,244-62,185,261 TM2D1
    nsv6545472inversion1nstd223human GRCh38 chr1: 61,702,648-61,703,330 , GRCh37.p13 chr1: 62,168,320-62,169,002 TM2D1
    nsv6540499inversion1nstd223human GRCh38 chr1: 61,720,299-61,721,566 , GRCh37.p13 chr1: 62,185,971-62,187,238 TM2D1
    nsv6331637copy number variation1nstd223human GRCh38 chr1: 61,712,615-61,719,584 , GRCh37.p13 chr1: 62,178,287-62,185,256 TM2D1
    nsv6317480copy number variation1nstd223human GRCh38 chr1: 61,688,948-61,691,861 , GRCh37.p13 chr1: 62,154,620-62,157,533 TM2D1
    nsv6060151insertion1nstd212human GRCh38 chr1: 61,706,834-61,706,834 , GRCh37.p13 chr1: 62,172,506-62,172,506 TM2D1
    nsv5884818copy number variation1nstd209human GRCh38 chr1: 61,713,210-61,713,366 , GRCh37.p13 chr1: 62,178,882-62,179,038 TM2D1
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