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Items: 1 to 20 of 481

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5976461inversion1nstd209human GRCh38 chr2: 27,448,313-28,588,967 , GRCh37.p13 chr2: 27,671,180-28,811,834 , FOSL2, 31 more genes
    nsv5958708insertion1nstd209human GRCh38 chr2: 28,551,171-28,551,171 , GRCh37.p13 chr2: 28,774,038-28,774,038 PLB1
    nsv5951789insertion1nstd209human GRCh38 chr2: 28,562,540-28,562,540 , GRCh37.p13 chr2: 28,785,407-28,785,407 PLB1
    nsv5885269copy number variation1nstd209human GRCh38 chr2: 28,510,132-28,548,012 , GRCh37.p13 chr2: 28,732,999-28,770,879 PLB1
    nsv5877762copy number variation1nstd209human GRCh38 chr2: 28,632,861-28,632,917 , GRCh37.p13 chr2: 28,855,728-28,855,784 PLB1
    nsv5870278copy number variation1nstd209human GRCh38 chr2: 28,497,871-28,498,412 , GRCh37.p13 chr2: 28,720,738-28,721,279 PLB1
    nsv5868634copy number variation1nstd209human GRCh38 chr2: 28,606,607-28,613,176 , GRCh37.p13 chr2: 28,829,474-28,836,043 PLB1
    nsv5832935copy number variation1nstd209human GRCh38 chr2: 28,509,726-28,541,212 , GRCh37.p13 chr2: 28,732,593-28,764,079 PLB1
    nsv5832602copy number variation1nstd209human GRCh38 chr2: 28,607,059-28,613,208 , GRCh37.p13 chr2: 28,829,926-28,836,075 PLB1
    nsv5678229mobile element insertion2nstd211human GRCh38 chr2: 28,509,377-28,509,377 , GRCh37.p13 chr2: 28,732,244-28,732,244 PLB1
    nsv5622102insertion1nstd207human GRCh38 chr2: 28,632,861-28,632,861 , GRCh37.p13 chr2: 28,855,728-28,855,728 PLB1
    nsv5567062copy number variation1nstd207human GRCh38 chr2: 28,497,871-28,498,412 , GRCh37.p13 chr2: 28,720,738-28,721,279 PLB1
    nsv5443988copy number variation1nstd206human GRCh38 chr2: 28,587,060-28,588,574 , GRCh37.p13 chr2: 28,809,927-28,811,441 PLB1
    nsv5408204mobile element insertion1nstd206human GRCh38 chr2: 28,509,377-28,509,428 , GRCh37.p13 chr2: 28,732,244-28,732,295 PLB1
    nsv5384022copy number variation1nstd186human GRCh37 chr2: 28,720,645-28,721,127 , GRCh38.p12 chr2: 28,497,778-28,498,260 PLB1
    nsv5381831copy number variation1nstd186human GRCh37 chr2: 28,720,722-28,721,203 , GRCh38.p12 chr2: 28,497,855-28,498,336 PLB1
    nsv5374922translocation1nstd200human GRCh38 chr2: 28,619,204-28,619,204 , GRCh38 chr2: 28,612,979-28,612,979 , GRCh37.p13 chr2: 28,842,071-28,842,071 , GRCh37.p13 chr2: 28,835,846-28,835,846 PLB1
    nsv5292686copy number variation1nstd204human GRCh38.p13 chr2: 28,612,999-28,616,110 , GRCh37.p13 chr2: 28,835,866-28,838,977 PLB1
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