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Items: 1 to 20 of 542

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099177copy number variation1nstd231human GRCh38.p12 chr1: 12,639,743-13,111,010 , GRCh37 chr1: 12,699,764-13,178,482 PRAMEF1, PRAMEF2, 20 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7055290inversion1nstd229human GRCh38 chr1: 12,786,723-13,397,565 , GRCh37.p13 chr1: 12,948,044-13,689,279 PRAMEF19, PRAMEF34P, 33 more genes
    nsv7054909inversion1nstd229human GRCh38 chr1: 12,941,907-13,234,434 , GRCh37.p13 chr1: 13,142,562-13,468,432 PRAMEF27, PRAMEF6, 12 more genes
    nsv7053624inversion1nstd229human GRCh38 chr1: 12,636,558-13,122,425 , GRCh37.p13 chr1: 12,996,150-13,689,213 , GRCh37.p13 chr1: 13,189,995-13,689,279 , GRCh37.p13 chr1: 12,696,563-13,189,898 PRAMEF4, AADACL3, 21 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048478inversion1nstd229human GRCh38 chr1: 12,833,357-13,345,558 , GRCh37.p13 chr1: 12,948,044-13,689,279 PRAMEF35P, HNRNPCL3, 28 more genes
    nsv7048291inversion1nstd229human GRCh38 chr1: 12,842,405-13,237,410 , GRCh37.p13 chr1: 12,902,258-13,468,432 PRAMEF18, HNRNPCL4, 19 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv7048076inversion1nstd229human GRCh38 chr1: 12,891,681-13,112,780 , GRCh37.p13 chr1: 13,189,995-13,689,279 PRAMEF25, PRAMEF6, 9 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6625816copy number variation1nstd224human GRCh37 chr1: 12,921,252-13,183,046 , GRCh38.p12 chr1: 12,861,397-13,115,574 HNRNPCL3, PRAMEF27, 12 more genes
    nsv6625812copy number variation2nstd224human GRCh37 chr1: 12,907,683-13,374,928 , GRCh38.p12 chr1: 12,847,830-13,152,461 PRAMEF10, HNRNPCL3, 15 more genes
    nsv6625759copy number variation3nstd224human GRCh37 chr1: 12,921,311-13,187,294 , GRCh38.p12 chr1: 12,861,456-13,119,821 PRAMEF25, PRAMEF27, 12 more genes
    nsv6625758copy number variation1nstd224human GRCh37 chr1: 12,921,272-13,187,294 , GRCh38.p12 chr1: 12,861,417-13,119,821 PRAMEF10, PRAMEF6, 12 more genes
    nsv6625757copy number variation1nstd224human GRCh37 chr1: 12,921,110-13,374,928 , GRCh38.p12 chr1: 12,861,255-13,152,461 HNRNPCL2, HNRNPCL3, 14 more genes
    nsv6625756copy number variation1nstd224human GRCh37 chr1: 12,911,200-13,374,928 , GRCh38.p12 chr1: 12,851,347-13,152,461 PRAMEF10, PRAMEF6, 14 more genes
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