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Items: 1 to 20 of 245

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5962023insertion1nstd209human GRCh38 chr2: 233,321,945-233,321,945 , GRCh37.p13 chr2: 234,230,591-234,230,591 SAG
    nsv5907038copy number variation1nstd209human GRCh38 chr2: 233,315,545-233,316,562 , GRCh37.p13 chr2: 234,224,191-234,225,208 SAG
    nsv5895739copy number variation1nstd209human GRCh38 chr2: 233,307,107-233,307,156 , GRCh37.p13 chr2: 234,215,753-234,215,802 SAG
    nsv5716984mobile element insertion2nstd211human GRCh38 chr2: 233,314,066-233,314,066 , GRCh37.p13 chr2: 234,222,712-234,222,712 SAG
    nsv5673615copy number variation2nstd102humanPathogenic GRCh37 chr2: 234,224,701-234,224,801 , GRCh38.p12 chr2|NW_011332690.1: 261,393-261,493 , GRCh38.p12 chr2: 233,316,055-233,316,155 SAG
    nsv5673217copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,217,836-234,217,930 , GRCh38.p12 chr2|NW_011332690.1: 254,528-254,622 , GRCh38.p12 chr2: 233,309,190-233,309,284 SAG
    nsv5610906insertion1nstd207human GRCh38 chr2: 233,340,751-233,340,751 , GRCh37.p13 chr2: 234,249,397-234,249,397 SAG
    nsv5572711copy number variation1nstd207human GRCh38 chr2: 233,307,107-233,307,156 , GRCh37.p13 chr2: 234,215,753-234,215,802 SAG
    nsv5444931copy number variation1nstd206human GRCh38 chr2: 233,333,333-233,342,128 , GRCh37.p13 chr2: 234,241,979-234,250,774 SAG
    nsv5444766copy number variation1nstd206human GRCh38 chr2: 233,326,724-233,327,990 , GRCh37.p13 chr2: 234,235,370-234,236,636 SAG
    nsv5441927copy number variation1nstd206human GRCh38 chr2: 233,310,801-233,317,114 , GRCh37.p13 chr2: 234,219,447-234,225,760 SAG
    nsv5366885translocation1nstd200human GRCh38 chr2: 233,346,794-233,346,794 , GRCh38 chr2: 233,351,583-233,351,583 , GRCh37.p13 chr2: 234,260,229-234,260,229 , GRCh37.p13 chr2: 234,255,440-234,255,440 SAG
    nsv5366884translocation1nstd200human GRCh38 chr2: 233,340,712-233,340,712 , GRCh38 chr2: 233,342,662-233,342,662 , GRCh37.p13 chr2: 234,249,358-234,249,358 , GRCh37.p13 chr2: 234,251,308-234,251,308 SAG
    nsv5366883translocation1nstd200human GRCh38 chr2: 233,342,685-233,342,685 , GRCh38 chr2: 233,339,594-233,339,594 , GRCh37.p13 chr2: 234,248,240-234,248,240 , GRCh37.p13 chr2: 234,251,331-234,251,331 SAG
    nsv5351211translocation1nstd200human GRCh38 chr2: 233,326,724-233,326,724 , GRCh38 chr2: 233,327,990-233,327,990 , GRCh37.p13 chr2: 234,235,370-234,235,370 , GRCh37.p13 chr2: 234,236,636-234,236,636 SAG
    nsv5342679translocation1nstd200human GRCh37 chr2: 234,260,229-234,260,229 , GRCh37 chr2: 234,255,440-234,255,440 , GRCh38.p12 chr2: 233,351,583-233,351,583 , GRCh38.p12 chr2|NW_011332690.1: 296,921-296,921 , GRCh38.p12 chr2: 233,346,794-233,346,794 , GRCh38.p12 chr2|NW_011332690.1: 292,132-292,132 SAG
    nsv5218618copy number variation1nstd204human GRCh38.p13 chr2: 233,277,010-233,340,262 , GRCh37.p13 chr2: 234,185,656-234,248,908 SCARNA6, ATG16L1, 1 more genes
    nsv5216684copy number variation1nstd204human GRCh38.p13 chr2: 233,339,394-233,379,485 , GRCh37.p13 chr2: 234,248,040-234,288,131 DGKD, SAG
    nsv5216367copy number variation1nstd204human GRCh38.p13 chr2: 233,333,301-233,341,800 , GRCh37.p13 chr2: 234,241,947-234,250,446 SAG
    nsv5216097copy number variation1nstd204human GRCh38.p13 chr2: 232,998,601-233,432,200 , GRCh37.p13 chr2: 233,863,311-234,340,846 SAG, ATG16L1, 8 more genes
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