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Items: 1 to 20 of 158

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7046201inversion1nstd229human GRCh38 chr1: 45,964,231-47,257,863 , GRCh37.p13 chr1: 46,429,903-47,723,535 TUBAP9, MKNK1-AS1, 45 more genes
    nsv6650687copy number variation1nstd229human GRCh38 chr1: 46,300,301-46,530,600 , GRCh37.p13 chr1: 46,765,973-46,996,272 UQCRH, LRRC41, 6 more genes
    nsv6650649copy number variation1nstd229human GRCh38 chr1: 45,728,361-46,294,276 , GRCh37.p13 chr1: 46,194,033-46,759,948 POMGNT1, LOC105378694, 13 more genes
    nsv6650548copy number variation1nstd229human GRCh38 chr1: 46,285,396-46,286,567 , GRCh37.p13 chr1: 46,751,068-46,752,239 LRRC41
    nsv6650021copy number variation1nstd229human GRCh38 chr1: 46,181,601-46,634,000 , GRCh37.p13 chr1: 46,647,273-47,099,672 FAAH, ATPAF1, 16 more genes
    nsv6650019copy number variation1nstd229human GRCh38 chr1: 46,155,838-46,286,125 , GRCh37.p13 chr1: 46,621,510-46,751,797 RAD54L, LRRC41, 6 more genes
    nsv6333828copy number variation1nstd223human GRCh38 chr1: 46,281,948-46,318,675 , GRCh37.p13 chr1: 46,747,620-46,784,347 LRRC41, UQCRH
    nsv6333518copy number variation1nstd223human GRCh38 chr1: 46,291,726-46,294,828 , GRCh37.p13 chr1: 46,757,398-46,760,500 LRRC41
    nsv6329504copy number variation1nstd223human GRCh38 chr1: 46,281,944-46,282,831 , GRCh37.p13 chr1: 46,747,616-46,748,503 LRRC41
    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
    nsv5431197copy number variation1nstd206human GRCh38 chr1: 46,272,725-46,296,337 , GRCh37.p13 chr1: 46,738,397-46,762,009 RAD54L, LRRC41
    nsv5423108copy number variation1nstd206human GRCh38 chr1: 46,294,518-46,294,591 , GRCh37.p13 chr1: 46,760,190-46,760,263 LRRC41
    nsv5078778mobile element insertion1nstd203human GRCh38 chr1: 46,293,254-46,293,269 , GRCh37.p13 chr1: 46,758,926-46,758,941 LRRC41
    nsv5071285mobile element insertion1nstd203human GRCh38 chr1: 46,291,114-46,291,133 , GRCh37.p13 chr1: 46,756,786-46,756,805 LRRC41
    nsv4906335copy number variation1nstd200human GRCh38 chr1: 46,284,045-46,284,159 , GRCh37.p13 chr1: 46,749,717-46,749,831 LRRC41
    nsv4903451copy number variation1nstd200human GRCh38 chr1: 46,281,905-46,318,739 , GRCh37.p13 chr1: 46,747,577-46,784,411 LRRC41, UQCRH
    nsv4773388copy number variation1nstd200human GRCh37 chr1: 46,768,575-46,768,705 , GRCh38.p12 chr1: 46,302,903-46,303,033 UQCRH, LRRC41
    nsv4773387copy number variation1nstd200human GRCh37 chr1: 46,747,608-46,748,505 , GRCh38.p12 chr1: 46,281,936-46,282,833 LRRC41
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