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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137511copy number variation1nstd232human GRCh37.p13 chr1: 19,545,974-19,546,059 , GRCh38.p12 chr1: 19,219,480-19,219,565 EMC1, EMC1-AS1
    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
    nsv7095950copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 19,566,354-19,570,529 , GRCh38.p12 chr1: 19,239,860-19,244,035 EMC1, EMC1-AS1
    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
    nsv7095770copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,545,797-19,568,987 , GRCh38.p12 chr1: 19,219,303-19,242,493 EMC1-AS1, EMC1
    nsv7095567copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,545,797-19,553,964 , GRCh38.p12 chr1: 19,219,303-19,227,470 EMC1, EMC1-AS1
    nsv7095497copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,549,098-19,578,003 , GRCh38.p12 chr1: 19,222,604-19,251,509 EMC1-AS1, MRTO4, 1 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
    nsv6646874copy number variation1nstd229human GRCh38 chr1: 19,200,551-19,292,975 , GRCh37.p13 chr1: 19,527,045-19,619,469 AKR7L, EMC1, 5 more genes
    nsv6646790copy number variation1nstd229human GRCh38 chr1: 19,226,844-19,233,158 , GRCh37.p13 chr1: 19,553,338-19,559,652 EMC1-AS1, EMC1
    nsv6646786copy number variation1nstd229human GRCh38 chr1: 19,146,123-19,244,963 , GRCh37.p13 chr1: 19,472,617-19,571,457 UBR4, EMC1-AS1, 1 more genes
    nsv6646589copy number variation1nstd229human GRCh38 chr1: 18,782,901-19,372,400 , GRCh37.p13 chr1: 19,109,395-19,698,894 MIR4695, AKR7A3, 15 more genes
    nsv6646406copy number variation1nstd229human GRCh38 chr1: 19,221,627-19,301,937 , GRCh37.p13 chr1: 19,548,121-19,628,431 AKR7A3, AKR7A2, 5 more genes
    nsv6314416insertion1nstd102humanPathogenic GRCh38 chr1: 19,239,959-19,239,959 , GRCh37 chr1: 19,566,453-19,566,453 EMC1, EMC1-AS1
    nsv6310929copy number variation1nstd102humanPathogenic GRCh37 chr1: 19,563,616-19,571,544 , GRCh38.p12 chr1: 19,237,122-19,245,050 EMC1, EMC1-AS1
    nsv6310928copy number variation1nstd102humanPathogenic GRCh37 chr1: 19,559,098-19,561,766 , GRCh38.p12 chr1: 19,232,604-19,235,272 EMC1-AS1, EMC1
    nsv6310927copy number variation1nstd102humanPathogenic GRCh37 chr1: 19,549,098-19,553,964 , GRCh38.p12 chr1: 19,222,604-19,227,470 EMC1-AS1, EMC1
    nsv6310743copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 19,545,797-19,578,003 , GRCh38.p12 chr1: 19,219,303-19,251,509 EMC1, MRTO4, 1 more genes
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