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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
    nsv7095749copy number variation1nstd102humanUncertain significance GRCh37 chr1: 120,277,237-120,529,725 , GRCh38.p12 chr1: 119,734,614-119,987,102 PFN1P9, HMGCS2, 6 more genes
    nsv7047189inversion1nstd229human GRCh38 chr1: 119,829,986-119,860,939 , GRCh37.p13 chr1: 120,372,609-120,403,562 PFN1P9, NBPF7P
    nsv6641210copy number variation1nstd229human GRCh38 chr1: 119,825,997-119,835,116 , GRCh37.p13 chr1: 120,368,620-120,377,739 NBPF7P
    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
    nsv6640888copy number variation1nstd229human GRCh38 chr1: 119,837,038-119,842,090 , GRCh37.p13 chr1: 120,379,661-120,384,713 NBPF7P
    nsv6640887copy number variation1nstd229human GRCh38 chr1: 119,824,701-119,831,800 , GRCh37.p13 chr1: 120,367,324-120,374,423 NBPF7P
    nsv6317466copy number variation1nstd223human GRCh38 chr1: 119,824,668-119,831,797 , GRCh37.p13 chr1: 120,367,291-120,374,420 NBPF7P
    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
    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
    nsv6148218copy number variation1nstd214human GRCh38 chr1: 119,844,215-119,844,283 , GRCh37.p13 chr1: 120,386,838-120,386,906 , NBPF7P
    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
    nsv5616097insertion1nstd207human GRCh38 chr1: 119,843,100-119,843,100 , GRCh37.p13 chr1: 120,385,723-120,385,723 , NBPF7P
    nsv5426190copy number variation1nstd206human GRCh38 chr1: 119,844,215-119,844,284 , GRCh37.p13 chr1: 120,386,838-120,386,907 , NBPF7P
    nsv5077834mobile element insertion1nstd203human GRCh38 chr1: 119,838,073-119,838,121 , GRCh37.p13 chr1: 120,380,696-120,380,744 , NBPF7P
    nsv5072947mobile element insertion1nstd203human GRCh38 chr1: 119,838,061-119,838,074 , GRCh37.p13 chr1: 120,380,684-120,380,697 , NBPF7P
    nsv5069499mobile element insertion1nstd203human GRCh38 chr1: 119,838,074-119,838,121 , GRCh37.p13 chr1: 120,380,697-120,380,744 , NBPF7P
    nsv5065640mobile element insertion1nstd203human GRCh38 chr1: 119,838,072-119,838,121 , GRCh37.p13 chr1: 120,380,695-120,380,744 , NBPF7P
    nsv4891038copy number variation1nstd200human GRCh38 chr1: 119,844,510-119,844,579 , GRCh37.p13 chr1: 120,387,133-120,387,202 , NBPF7P
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