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Items: 1 to 20 of 169

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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
    nsv7095241copy number variation1nstd102humanPathogenic GRCh37 chr1: 119,466,351-120,286,570 , GRCh38.p12 chr1: 118,923,728-119,743,947 HAO2-IT1, LINC01780, 29 more genes
    nsv7047805inversion1nstd229human GRCh38 chr1: 119,209,133-119,576,834 , GRCh37.p13 chr1: 119,751,756-120,119,457 HSD3BP4, RNU1-75P, 17 more genes
    nsv6640996copy number variation1nstd229human GRCh38 chr1: 119,180,006-119,885,056 , GRCh37.p13 chr1: 119,722,629-120,427,679 PHGDH, NOTCH2P1, 28 more genes
    nsv6640876copy number variation1nstd229human GRCh38 chr1: 119,294,157-119,747,268 , GRCh37.p13 chr1: 119,836,780-120,289,891 ZNF697, HSD3BP3, 21 more genes
    nsv6637125copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,836,835-120,151,604 , GRCh38.p12 chr1: 119,294,212-119,608,981 HSD3BP4, GAPDHP33, 17 more genes
    nsv6625106copy number variation5nstd224human GRCh37 chr1: 120,099,044-120,123,642 , GRCh38.p12 chr1: 119,556,421-119,581,019 HSD3BP4, GAPDHP27
    nsv6332826copy number variation1nstd223human GRCh38 chr1: 119,386,345-119,599,790 , GRCh37.p13 chr1: 119,928,968-120,142,413 HAO2, GAPDHP32, 14 more genes
    nsv6332235copy number variation1nstd223human GRCh38 chr1: 119,553,710-119,586,892 , GRCh37.p13 chr1: 120,096,333-120,129,515 HSD3BP4, GAPDHP27
    nsv6317547copy number variation1nstd223human GRCh38 chr1: 119,554,899-119,587,961 , GRCh37.p13 chr1: 120,097,522-120,130,584 GAPDHP27, HSD3BP4
    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
    nsv6310719copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,618,953-120,311,467 , GRCh38.p12 chr1: 119,076,330-119,768,844 LOC105378937, HMGCS2, 27 more genes
    nsv6310669copy number variation2nstd102humanUncertain significance GRCh37 chr1: 119,427,355-120,529,725 , GRCh38.p12 chr1: 118,884,732-119,987,102 NOTCH2P1, NOTCH2, 36 more genes
    nsv6290447copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,584,796-120,527,495 , GRCh38.p12 chr1: 119,042,173-119,984,872 RBMX2P3, NOTCH2P1, 34 more genes
    nsv6133551copy number variation1nstd213human GRCh37 chr1: 118,860,000-120,540,001 , GRCh38.p12 chr1: 118,317,377-119,997,378 HSD3B1, WARS2, 39 more genes
    nsv5827935copy number variation1nstd209human GRCh38 chr1: 119,553,496-119,564,506 , GRCh37.p13 chr1: 120,096,119-120,107,129 GAPDHP27, HSD3BP4
    nsv5827827copy number variation2nstd209human GRCh38 chr1: 119,559,778-119,570,379 , GRCh37.p13 chr1: 120,102,401-120,113,002 HSD3BP4, GAPDHP27
    nsv5827734copy number variation1nstd209human GRCh38 chr1: 119,556,145-119,559,077 , GRCh37.p13 chr1: 120,098,768-120,101,700 GAPDHP27
    nsv5426051copy number variation1nstd206human GRCh38 chr1: 119,553,763-119,586,896 , GRCh37.p13 chr1: 120,096,386-120,129,519 GAPDHP27, HSD3BP4
    nsv4891026copy number variation1nstd200human GRCh38 chr1: 119,554,889-119,587,956 , GRCh37.p13 chr1: 120,097,512-120,130,579 HSD3BP4, GAPDHP27
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