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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7052350inversion1nstd229human GRCh38 chr1: 39,475,769-39,791,589 , GRCh37.p13 chr1: 39,941,441-40,257,261 HPCAL4, BMP8A, 16 more genes
    nsv7048553inversion1nstd229human GRCh38 chr1: 39,509,885-39,776,300 , GRCh37.p13 chr1: 39,975,557-40,241,972 HEYL, HPCAL4, 12 more genes
    nsv7046807inversion1nstd229human GRCh38 chr1: 39,567,617-39,778,930 , GRCh37.p13 chr1: 40,033,289-40,244,602 PABPC4-AS1, BMP8B, 10 more genes
    nsv7041039inversion1nstd229human GRCh38 chr1: 39,509,853-39,778,286 , GRCh37.p13 chr1: 39,975,525-40,243,958 HEYL, PABPC4, 13 more genes
    nsv6626022copy number variation1nstd224human GRCh37 chr1: 40,183,242-40,312,903 , GRCh38.p12 chr1: 39,717,570-39,847,231 BMP8B, PPIE, 8 more genes
    nsv6555552inversion1nstd223human GRCh38 chr1: 39,475,781-39,791,614 , GRCh37.p13 chr1: 39,941,453-40,257,286 BMP8A, BMP8B-AS1, 16 more genes
    nsv6554354inversion1nstd223human GRCh38 chr1: 39,495,135-39,785,640 , GRCh37.p13 chr1: 39,960,807-40,251,312 LOC100128091, PPIEL, 14 more genes
    nsv6548849inversion1nstd223human GRCh38 chr1: 39,475,763-39,791,530 , GRCh37.p13 chr1: 39,941,435-40,257,202 RNU7-121P, LOC101929536, 16 more genes
    nsv6544043inversion1nstd223human GRCh38 chr1: 39,493,181-39,787,246 , GRCh37.p13 chr1: 39,958,853-40,252,918 PPIEL, LOC100128091, 15 more genes
    nsv6541973inversion1nstd223human GRCh38 chr1: 39,495,195-39,785,623 , GRCh37.p13 chr1: 39,960,867-40,251,295 PABPC4-AS1, OXCT2P1, 14 more genes
    nsv6541136inversion1nstd223human GRCh38 chr1: 39,567,617-39,778,934 , GRCh37.p13 chr1: 40,033,289-40,244,606 BMP8B-AS1, HPCAL4, 10 more genes
    nsv6334780copy number variation1nstd223human GRCh38 chr1: 39,716,070-39,847,289 , GRCh37.p13 chr1: 40,181,742-40,312,961 BMP8B-AS1, BMP8B, 8 more genes
    nsv6331574copy number variation1nstd223human GRCh38 chr1: 39,692,290-39,789,254 , GRCh37.p13 chr1: 40,157,962-40,254,926 PPIE, OXCT2, 5 more genes
    nsv6329111copy number variation1nstd223human GRCh38 chr1: 39,760,401-39,771,100 , GRCh37.p13 chr1: 40,226,073-40,236,772 OXCT2, PPIE, 1 more genes
    nsv6326001copy number variation1nstd223human GRCh38 chr1: 39,767,901-39,770,400 , GRCh37.p13 chr1: 40,233,573-40,236,072 OXCT2, BMP8B
    nsv6325522copy number variation1nstd223human GRCh38 chr1: 39,769,201-39,770,700 , GRCh37.p13 chr1: 40,234,873-40,236,372 OXCT2, BMP8B
    nsv6324061copy number variation1nstd223human GRCh38 chr1: 39,747,001-39,771,500 , GRCh37.p13 chr1: 40,212,673-40,237,172 OXCT2, PPIE, 1 more genes
    nsv6315689copy number variation1nstd223human GRCh38 chr1: 39,761,701-39,771,100 , GRCh37.p13 chr1: 40,227,373-40,236,772 BMP8B, OXCT2, 1 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
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