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Items: 1 to 20 of 251

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5963868insertion1nstd209human GRCh38 chr8: 18,085,612-18,085,612 , GRCh37.p13 chr8: 17,943,121-17,943,121 ASAH1-AS1, MRPS18CP3
    nsv5853535copy number variation1nstd209human GRCh38 chr8: 18,095,137-18,096,136 , GRCh37.p13 chr8: 17,952,646-17,953,645 ASAH1-AS1
    nsv5714149mobile element insertion2nstd211human GRCh38 chr8: 18,085,627-18,085,627 , GRCh37.p13 chr8: 17,943,136-17,943,136 ASAH1-AS1, MRPS18CP3
    nsv5640323insertion1nstd207human GRCh38 chr8: 18,085,612-18,085,612 , GRCh37.p13 chr8: 17,943,121-17,943,121 ASAH1-AS1, MRPS18CP3
    nsv5554173sequence alteration1nstd206human GRCh38 chr8: 18,056,323-18,286,790 , GRCh37.p13 chr8: 17,913,832-18,144,299 NAT1, ASAH1, 5 more genes
    nsv5486385copy number variation1nstd206human GRCh38 chr8: 18,079,405-18,087,893 , GRCh37.p13 chr8: 17,936,914-17,945,402 ASAH1-AS1, ASAH1, 2 more genes
    nsv5481612copy number variation1nstd206human GRCh38 chr8: 18,088,861-18,090,043 , GRCh37.p13 chr8: 17,946,370-17,947,552 ABRAXAS1P2, ASAH1-AS1
    nsv5474153copy number variation1nstd206human GRCh38 chr8: 18,088,746-18,088,874 , GRCh37.p13 chr8: 17,946,255-17,946,383 ASAH1-AS1, ABRAXAS1P2
    nsv5406029mobile element insertion1nstd206human GRCh38 chr8: 18,085,627-18,085,678 , GRCh37.p13 chr8: 17,943,136-17,943,187 ASAH1-AS1, MRPS18CP3
    nsv5381556copy number variation1nstd102humanUncertain significance GRCh37 chr8: 17,912,925-17,942,879 , GRCh38.p12 chr8: 18,055,416-18,085,370 ASAH1-AS1, ASAH1, 1 more genes
    nsv5200364copy number variation1nstd102humanPathogenic GRCh37 chr8: 176,814-43,396,776 , GRCh38.p12 chr8: 226,814-43,541,633 LOC100130612, XPO7, 770 more genes
    nsv5119486mobile element insertion1nstd203human GRCh38 chr8: 18,085,616-18,085,627 , GRCh37.p13 chr8: 17,943,125-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv5118015mobile element insertion1nstd203human GRCh38 chr8: 18,085,611-18,085,627 , GRCh37.p13 chr8: 17,943,120-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv5115377mobile element insertion1nstd203human GRCh38 chr8: 18,085,617-18,085,627 , GRCh37.p13 chr8: 17,943,126-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv5108782mobile element insertion1nstd203human GRCh38 chr8: 18,085,619-18,085,627 , GRCh37.p13 chr8: 17,943,128-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv5107162mobile element insertion1nstd203human GRCh38 chr8: 18,085,612-18,085,627 , GRCh37.p13 chr8: 17,943,121-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv5103708mobile element insertion1nstd203human GRCh38 chr8: 18,085,627-18,085,627 , GRCh37.p13 chr8: 17,943,136-17,943,136 MRPS18CP3, ASAH1-AS1
    nsv4959460copy number variation1nstd200human GRCh38 chr8: 18,088,768-18,090,062 , GRCh37.p13 chr8: 17,946,277-17,947,571 ABRAXAS1P2, ASAH1-AS1
    nsv4959459copy number variation1nstd200human GRCh38 chr8: 18,087,556-18,249,696 , GRCh37.p13 chr8: 17,945,065-18,107,205 ASAH1-AS1, NAT1, 3 more genes
    nsv4959457copy number variation1nstd200human GRCh38 chr8: 18,070,376-18,105,464 , GRCh37.p13 chr8: 17,927,885-17,962,973 ASAH1, ABRAXAS1P2, 2 more genes
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