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Items: 1 to 20 of 269

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099254copy number variation1nstd231human GRCh38.p12 chr1: 182,376,401-191,898,122 , GRCh37 chr1: 182,345,536-191,867,252 DHX9, GLUL, 99 more genes
    nsv6646055copy number variation1nstd229human GRCh38 chr1: 183,485,901-183,499,000 , GRCh37.p13 chr1: 183,455,036-183,468,135 SMG7
    nsv6645995copy number variation1nstd229human GRCh38 chr1: 183,516,801-183,523,000 , GRCh37.p13 chr1: 183,485,936-183,492,135 SMG7
    nsv6645917copy number variation1nstd229human GRCh38 chr1: 183,491,201-183,497,600 , GRCh37.p13 chr1: 183,460,336-183,466,735 SMG7
    nsv6645549copy number variation1nstd229human GRCh38 chr1: 183,507,235-183,507,972 , GRCh37.p13 chr1: 183,476,370-183,477,107 SMG7
    nsv6645548copy number variation1nstd229human GRCh38 chr1: 183,484,774-183,484,840 , GRCh37.p13 chr1: 183,453,909-183,453,975 SMG7
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6554315inversion1nstd223human GRCh38 chr1: 183,513,462-183,514,021 , GRCh37.p13 chr1: 183,482,597-183,483,156 SMG7
    nsv6541895inversion1nstd223human GRCh38 chr1: 183,494,939-183,495,881 , GRCh37.p13 chr1: 183,464,074-183,465,016 SMG7
    nsv6538602inversion1nstd223human GRCh38 chr1: 183,521,314-183,521,605 , GRCh37.p13 chr1: 183,490,449-183,490,740 SMG7
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6335273copy number variation1nstd223human GRCh38 chr1: 183,511,644-183,512,307 , GRCh37.p13 chr1: 183,480,779-183,481,442 SMG7
    nsv6327696copy number variation1nstd223human GRCh38 chr1: 183,535,401-183,538,200 , GRCh37.p13 chr1: 183,504,536-183,507,335 SMG7
    nsv6326336copy number variation1nstd223human GRCh38 chr1: 183,549,136-183,549,500 , GRCh37.p13 chr1: 183,518,271-183,518,635 SMG7
    nsv6325737copy number variation1nstd223human GRCh38 chr1: 183,509,501-183,510,700 , GRCh37.p13 chr1: 183,478,636-183,479,835 SMG7
    nsv6323631copy number variation1nstd223human GRCh38 chr1: 183,504,951-183,507,178 , GRCh37.p13 chr1: 183,474,086-183,476,313 SMG7
    nsv6323246copy number variation1nstd223human GRCh38 chr1: 183,535,001-183,536,900 , GRCh37.p13 chr1: 183,504,136-183,506,035 SMG7
    nsv6321379copy number variation1nstd223human GRCh38 chr1: 183,499,560-183,500,225 , GRCh37.p13 chr1: 183,468,695-183,469,360 SMG7
    nsv6321260copy number variation1nstd223human GRCh38 chr1: 183,530,901-183,532,100 , GRCh37.p13 chr1: 183,500,036-183,501,235 SMG7
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