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Items: 1 to 20 of 298

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5702063mobile element insertion2nstd211human GRCh38 chr13: 39,712,422-39,712,422 , GRCh37.p13 chr13: 40,286,559-40,286,559 COG6
    nsv5695047mobile element insertion2nstd211human GRCh38 chr13: 39,727,336-39,727,336 , GRCh37.p13 chr13: 40,301,473-40,301,473 COG6
    nsv5660116insertion1nstd207human GRCh38 chr13: 39,712,406-39,712,406 , GRCh37.p13 chr13: 40,286,543-40,286,543 COG6
    nsv5651561insertion1nstd207human GRCh38 chr13: 39,706,255-39,706,255 , GRCh37.p13 chr13: 40,280,392-40,280,392 COG6
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5510185copy number variation1nstd206human GRCh38 chr13: 39,746,142-39,746,544 , GRCh37.p13 chr13: 40,320,279-40,320,681 COG6
    nsv5505075copy number variation1nstd206human GRCh38 chr13: 39,633,575-39,738,123 , GRCh37.p13 chr13: 40,207,712-40,312,260 COG6, MIR4305
    nsv5499990copy number variation1nstd206human GRCh38 chr13: 39,753,281-39,753,556 , GRCh37.p13 chr13: 40,327,418-40,327,693 COG6
    nsv5494138copy number variation1nstd206human GRCh38 chr13: 39,660,219-39,660,323 , GRCh37.p13 chr13: 40,234,356-40,234,460 COG6
    nsv5494115copy number variation1nstd206human GRCh38 chr13: 39,784,243-39,784,312 , GRCh37.p13 chr13: 40,358,380-40,358,449 COG6, RNY4P14
    nsv5423096mobile element insertion1nstd206human GRCh38 chr13: 39,727,319-39,727,319 , GRCh37.p13 chr13: 40,301,456-40,301,456 COG6
    nsv5417581mobile element insertion1nstd206human GRCh38 chr13: 39,712,422-39,712,473 , GRCh37.p13 chr13: 40,286,559-40,286,610 COG6
    nsv5379822translocation1nstd200human GRCh38 chr13: 39,696,931-39,696,931 , GRCh38 chr13: 39,694,119-39,694,119 , GRCh37.p13 chr13: 40,271,068-40,271,068 , GRCh37.p13 chr13: 40,268,256-40,268,256 COG6
    nsv5356802translocation1nstd200human GRCh38 chr13: 39,694,096-39,694,096 , GRCh38 chr13: 39,696,503-39,696,503 , GRCh37.p13 chr13: 40,270,640-40,270,640 , GRCh37.p13 chr13: 40,268,233-40,268,233 COG6
    nsv5343845translocation1nstd200human GRCh37 chr13: 40,268,233-40,268,233 , GRCh37 chr13: 40,270,640-40,270,640 , GRCh38.p12 chr13: 39,694,096-39,694,096 , GRCh38.p12 chr13: 39,696,503-39,696,503 COG6
    nsv5339690translocation1nstd200human GRCh37 chr13: 40,268,256-40,268,256 , GRCh37 chr13: 40,271,068-40,271,068 , GRCh38.p12 chr13: 39,696,931-39,696,931 , GRCh38.p12 chr13: 39,694,119-39,694,119 COG6
    nsv5270126copy number variation1nstd204human GRCh37.p13 chr13: 40,148,338-40,656,237 , GRCh38.p13 chr13: 39,574,201-40,082,100 LHFPL6, COG6, 7 more genes
    nsv5263985copy number variation1nstd204human GRCh38.p13 chr13: 39,670,301-39,672,700 , GRCh37.p13 chr13: 40,244,438-40,246,837 COG6
    nsv5260836copy number variation1nstd204human GRCh38.p13 chr13: 39,760,901-39,764,000 , GRCh37.p13 chr13: 40,335,038-40,338,137 COG6
    nsv5159179mobile element insertion1nstd203human GRCh38 chr13: 39,712,405-39,712,422 , GRCh37.p13 chr13: 40,286,542-40,286,559 COG6
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