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Items: 1 to 20 of 179

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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
    nsv6644982copy number variation1nstd229human GRCh38 chr1: 17,379,116-17,379,413 , GRCh37.p13 chr1: 17,705,611-17,705,908 PADI6
    nsv6644893copy number variation1nstd229human GRCh38 chr1: 17,401,200-17,420,622 , GRCh37.p13 chr1: 17,727,696-17,747,118 RCC2, PADI6
    nsv6644885copy number variation1nstd229human GRCh38 chr1: 17,371,901-17,376,200 , GRCh37.p13 chr1: 17,698,396-17,702,695 PADI6
    nsv6644815copy number variation1nstd229human GRCh38 chr1: 17,336,327-17,377,262 , GRCh37.p13 chr1: 17,662,822-17,703,757 PADI6, PADI4
    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
    nsv6334583copy number variation1nstd223human GRCh38 chr1: 17,379,101-17,379,413 , GRCh37.p13 chr1: 17,705,596-17,705,908 PADI6
    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
    nsv6118400copy number variation1nstd186human GRCh37 chr1: 17,705,611-17,705,908 , GRCh38.p12 chr1: 17,379,116-17,379,413 , GRCh38.p12 chr1|NW_011332688.1: 224,339-224,636 PADI6
    nsv5886685copy number variation1nstd209human GRCh38 chr1: 17,379,101-17,379,412 , GRCh37.p13 chr1: 17,705,596-17,705,907 PADI6
    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
    nsv5583187copy number variation1nstd207human GRCh38 chr1: 17,379,101-17,379,412 , GRCh37.p13 chr1: 17,705,596-17,705,907 PADI6
    nsv5432502copy number variation1nstd206human GRCh38 chr1: 17,336,327-17,377,262 , GRCh37.p13 chr1: 17,662,822-17,703,757 PADI4, PADI6
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