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Items: 1 to 20 of 184

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv7040958inversion1nstd229human GRCh38 chr1: 117,705,541-118,353,156 , GRCh37.p13 chr1: 118,248,163-118,895,779 GDAP2, PNRC2P1, 5 more genes
    nsv6640923copy number variation1nstd229human GRCh38 chr1: 117,890,540-117,890,733 , GRCh37.p13 chr1: 118,433,162-118,433,355 GDAP2
    nsv6640724copy number variation1nstd229human GRCh38 chr1: 117,912,647-117,922,253 , GRCh37.p13 chr1: 118,455,269-118,464,876 GDAP2
    nsv6640723copy number variation1nstd229human GRCh38 chr1: 117,889,601-117,910,300 , GRCh37.p13 chr1: 118,432,223-118,452,922 GDAP2
    nsv6640712copy number variation1nstd229human GRCh38 chr1: 117,449,052-117,878,323 , GRCh37.p13 chr1: 117,991,674-118,420,945 VPS25P1, PNRC2P1, 7 more genes
    nsv6640514copy number variation1nstd229human GRCh38 chr1: 117,928,402-117,957,331 , GRCh37.p13 chr1: 118,471,025-118,499,954 WDR3, SPAG17, 1 more genes
    nsv6640511copy number variation1nstd229human GRCh38 chr1: 117,884,052-117,884,119 , GRCh37.p13 chr1: 118,426,674-118,426,741 GDAP2
    nsv6332576copy number variation1nstd223human GRCh38 chr1: 117,868,750-117,869,271 , GRCh37.p13 chr1: 118,411,372-118,411,893 GDAP2
    nsv6329821copy number variation1nstd223human GRCh38 chr1: 117,904,958-117,905,655 , GRCh37.p13 chr1: 118,447,580-118,448,277 GDAP2
    nsv6324208copy number variation1nstd223human GRCh38 chr1: 117,889,201-117,889,800 , GRCh37.p13 chr1: 118,431,823-118,432,422 GDAP2
    nsv6321531copy number variation1nstd223human GRCh38 chr1: 117,898,650-117,899,182 , GRCh37.p13 chr1: 118,441,272-118,441,804 GDAP2
    nsv6319165copy number variation1nstd223human GRCh38 chr1: 117,912,647-117,922,250 , GRCh37.p13 chr1: 118,455,269-118,464,873 GDAP2
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6298427copy number variation1nstd186human GRCh37 chr1: 118,429,365-118,429,856 , GRCh38.p12 chr1: 117,886,743-117,887,234 GDAP2
    nsv6219555insertion1nstd214human GRCh38 chr1: 117,903,507-117,903,507 , GRCh37.p13 chr1: 118,446,129-118,446,129 GDAP2
    nsv6133922copy number variation1nstd213human GRCh37 chr1: 118,310,000-118,690,001 , GRCh38.p12 chr1: 117,767,378-118,147,378 WDR3, GDAP2, 3 more genes
    nsv6133550copy number variation1nstd213human GRCh37 chr1: 117,260,000-118,670,001 , GRCh38.p12 chr1: 116,717,378-118,127,378 PTGFRN, CD101, 23 more genes
    nsv6058646insertion1nstd212human GRCh38 chr1: 117,916,206-117,916,206 , GRCh37.p13 chr1: 118,458,828-118,458,828 GDAP2
    nsv5876663copy number variation1nstd209human GRCh38 chr1: 117,890,536-117,890,732 , GRCh37.p13 chr1: 118,433,158-118,433,354 GDAP2
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