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Items: 1 to 20 of 89

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096394copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,473,293 , GRCh38.p12 chr2: 210,556,709-210,608,569 CPS1
    nsv7096232copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,507,198-211,515,172 , GRCh38.p12 chr2: 210,642,474-210,650,448 CPS1
    nsv7096128copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,469,816-211,477,027 , GRCh38.p12 chr2: 210,605,092-210,612,303 CPS1
    nsv6311633copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,512,577-211,513,274 , GRCh38.p12 chr2: 210,647,853-210,648,550 CPS1
    nsv5673215copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,421,593 , GRCh38.p12 chr2: 210,556,709-210,556,869 CPS1
    nsv7096606copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,456,088-211,479,828 , GRCh38.p12 chr2: 210,591,364-210,615,104 CPS1
    nsv6315283copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,507,390-211,513,223 , GRCh38.p12 chr2: 210,642,666-210,648,499 CPS1
    nsv7093050copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,523,321-211,524,166 , GRCh38 chr2: 210,658,597-210,659,442 CPS1
    nsv6311368copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,454,820-211,455,640 , GRCh38.p12 chr2: 210,590,096-210,590,916 CPS1
    nsv4683418copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,523,303-211,542,729 , GRCh38.p12 chr2: 210,658,579-210,678,005 CPS1
    nsv7096231copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,503,854-211,503,959 , GRCh38.p12 chr2: 210,639,130-210,639,235 CPS1
    nsv5673376copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,441,050-211,542,729 , GRCh38.p12 chr2: 210,576,326-210,678,005 CPS1, CPS1-IT1
    nsv7096192copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,436,160-211,541,748 , GRCh38.p12 chr2: 210,571,436-210,677,024 CPS1, CPS1-IT1
    nsv7137005copy number variation1nstd102humanLikely pathogenic GRCh37 chr6: 32,007,026-32,008,182 , GRCh38.p12 chr6: 32,039,249-32,040,405 CYP21A2, TNXB
    nsv4578646copy number variation1nstd102humanUncertain significance GRCh37 chr6: 32,009,126-32,012,493 , GRCh38.p12 chr6: 32,041,349-32,044,716 CYP21A2, TNXB
    nsv3888594copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,445,066-211,674,837 , GRCh38.p12 chr2: 210,580,342-210,810,113 CPS1, CPS1-IT1
    nsv7096605copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,421,458-211,542,709 , GRCh38.p12 chr2: 210,556,734-210,677,985 CPS1, CPS1-IT1
    nsv7093367copy number variation1nstd102humanUncertain significance GRCh37 chr6: 32,006,200-32,011,669 , GRCh38.p12 chr6: 32,038,423-32,043,892 CYP21A2, TNXB
    nsv4578628copy number variation1nstd102humanUncertain significance GRCh37 chr6: 32,009,126-32,011,669 , GRCh38.p12 chr6: 32,041,349-32,043,892 TNXB, CYP21A2
    nsv4674357copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,289,241-211,376,494 , GRCh38.p12 chr2: 210,424,517-210,511,770 CPS1, LANCL1-AS1, 1 more genes
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