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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099180copy number variation1nstd231human GRCh38.p12 chr1: 17,015,046-18,804,744 , GRCh37 chr1: 17,341,541-19,131,238 PAX7, SDHB, 19 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
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv6644693copy number variation1nstd229human GRCh38 chr1: 17,156,201-17,199,100 , GRCh37.p13 chr1: 17,482,696-17,525,595 LINC02783
    nsv6644692copy number variation1nstd229human GRCh38 chr1: 17,155,301-17,188,300 , GRCh37.p13 chr1: 17,481,796-17,514,795 LINC02783
    nsv6644585copy number variation1nstd229human GRCh38 chr1: 17,156,601-17,199,000 , GRCh37.p13 chr1: 17,483,096-17,525,495 LINC02783
    nsv6644331copy number variation1nstd229human GRCh38 chr1: 17,188,804-17,192,700 , GRCh37.p13 chr1: 17,515,299-17,519,195 LINC02783
    nsv6644317copy number variation1nstd229human GRCh38 chr1: 17,157,601-17,188,100 , GRCh37.p13 chr1: 17,484,096-17,514,595 LINC02783
    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
    nsv6320029copy number variation1nstd223human GRCh38 chr1: 17,157,604-17,188,087 , GRCh37.p13 chr1: 17,484,099-17,514,582 LINC02783
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6290472copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,773,001-20,221,073 , GRCh38.p12 chr1: 16,446,506-19,894,580 MIR1290, RNU6-1099P, 92 more genes
    nsv6290458copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,531-17,770,100 , GRCh38.p12 chr1|NW_011332688.1: 1-288,827 , GRCh38.p12 chr1: 16,958,036-17,443,604 PADI2, RCC2, 12 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6133948copy number variation1nstd213human GRCh37 chr1: 17,280,000-26,950,001 , GRCh38.p12 chr1: 16,953,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv6133748copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,960,001 , GRCh38.p12 chr1: 16,943,505-26,633,510 ALPL, C1QA, 250 more genes
    nsv6133572copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,950,001 , GRCh38.p12 chr1: 16,943,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv5887244copy number variation1nstd209human GRCh38 chr1: 17,157,603-17,188,086 , GRCh37.p13 chr1: 17,484,098-17,514,581 LINC02783
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5615086insertion1nstd207human GRCh38 chr1: 17,191,906-17,191,906 , GRCh37.p13 chr1: 17,518,401-17,518,401 LINC02783
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