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Items: 1 to 20 of 174

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099181copy number variation1nstd231human GRCh38.p12 chr1: 18,899,486-20,046,918 , GRCh37 chr1: 19,225,980-20,373,411 CAPZB, HTR6, 32 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
    nsv7095949copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371 RPL29P6, NBPF3, 156 more genes
    nsv7095496copy number variation3nstd102humanUncertain significance GRCh37 chr1: 19,199,339-22,987,879 , GRCh38.p12 chr1: 18,872,845-22,661,386 RN7SL277P, MPHOSPH6P1, 103 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
    nsv6646894copy number variation1nstd229human GRCh38 chr1: 19,645,318-19,652,443 , GRCh37.p13 chr1: 19,971,812-19,978,936 MICOS10-NBL1, NBL1
    nsv6646433copy number variation1nstd229human GRCh38 chr1: 19,647,793-19,647,927 , GRCh37.p13 chr1: 19,974,287-19,974,421 MICOS10-NBL1, NBL1
    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
    nsv6157301copy number variation1nstd214human GRCh38 chr1: 19,642,973-19,643,116 , GRCh37.p13 chr1: 19,969,467-19,969,610 MICOS10-NBL1, NBL1
    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
    nsv6133962copy number variation1nstd213human GRCh37 chr1: 19,870,000-20,530,001 , GRCh38.p12 chr1: 19,543,506-20,203,508 HTR6, NBL1, 18 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
    nsv5982019copy number variation1nstd212human GRCh38 chr1: 19,642,982-19,643,130 , GRCh37.p13 chr1: 19,969,476-19,969,624 MICOS10-NBL1, NBL1
    nsv5948853insertion1nstd209human GRCh38 chr1: 19,649,969-19,649,969 , GRCh37.p13 chr1: 19,976,463-19,976,463 MICOS10-NBL1, NBL1
    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
    nsv5573535copy number variation1nstd207human GRCh38 chr1: 19,642,973-19,643,116 , GRCh37.p13 chr1: 19,969,467-19,969,610 NBL1, MICOS10-NBL1
    nsv5542002insertion1nstd206human GRCh38 chr1: 19,649,992-19,650,032 , GRCh37.p13 chr1: 19,976,486-19,976,526 NBL1, MICOS10-NBL1
    nsv5384584copy number variation1nstd186human GRCh37 chr1: 19,969,422-19,969,663 , GRCh38.p12 chr1: 19,642,928-19,643,169 NBL1, MICOS10-NBL1
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