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Items: 1 to 20 of 176

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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
    nsv5576886copy number variation1nstd207human GRCh38 chr2: 27,101,385-27,101,435 , GRCh37.p13 chr2: 27,324,253-27,324,303 CGREF1
    nsv5442941copy number variation1nstd206human GRCh38 chr2: 27,107,686-27,109,689 , GRCh37.p13 chr2: 27,330,554-27,332,557 CGREF1
    nsv5438904copy number variation1nstd206human GRCh38 chr2: 27,091,830-27,101,247 , GRCh37.p13 chr2: 27,314,698-27,324,115 KHK, CGREF1
    nsv5358740translocation1nstd200human GRCh38 chr2: 27,091,830-27,091,830 , GRCh38 chr2: 27,101,247-27,101,247 , GRCh37.p13 chr2: 27,314,698-27,314,698 , GRCh37.p13 chr2: 27,324,115-27,324,115 CGREF1, KHK
    nsv5280905copy number variation1nstd204human GRCh37.p13 chr2: 27,314,698-27,324,115 , GRCh38.p13 chr2: 27,091,830-27,101,247 KHK, CGREF1
    nsv5217578copy number variation1nstd204human GRCh38.p13 chr2: 27,090,411-27,101,247 , GRCh37.p13 chr2: 27,313,279-27,324,115 CGREF1, KHK
    nsv5217537copy number variation1nstd204human GRCh38.p13 chr2: 27,091,801-27,101,200 , GRCh37.p13 chr2: 27,314,669-27,324,068 KHK, CGREF1
    nsv5215100copy number variation1nstd204human GRCh38.p13 chr2: 27,097,501-27,101,200 , GRCh37.p13 chr2: 27,320,369-27,324,068 KHK, CGREF1
    nsv5213794copy number variation1nstd204human GRCh38.p13 chr2: 27,099,836-27,101,335 , GRCh37.p13 chr2: 27,322,704-27,324,203 CGREF1, KHK
    nsv5202930copy number variation1nstd204human GRCh38.p13 chr2: 27,089,998-27,101,235 , GRCh37.p13 chr2: 27,312,866-27,324,103 KHK, CGREF1
    nsv4900786copy number variation1nstd200human GRCh38 chr2: 27,096,437-27,105,808 , GRCh37.p13 chr2: 27,319,305-27,328,676 CGREF1, KHK
    nsv4775870copy number variation1nstd200human GRCh37 chr2: 27,314,698-27,324,115 , GRCh38.p12 chr2: 27,091,830-27,101,247 CGREF1, KHK
    nsv4736573copy number variation1nstd199human GRCh37 chr2: 27,324,278-27,324,331 , GRCh38.p12 chr2: 27,101,410-27,101,463 CGREF1
    nsv4585732copy number variation1nstd183human GRCh37 chr2: 27,314,694-27,324,115 , GRCh38.p12 chr2: 27,091,826-27,101,247 CGREF1, KHK
    nsv4453362copy number variation1nstd102humanUncertain significance GRCh37 chr2: 27,311,743-27,362,371 , GRCh38.p12 chr2: 27,088,875-27,139,503 CGREF1, ABHD1, 3 more genes
    nsv4441049copy number variation1nstd175human GRCh37 chr2: 27,324,253-27,324,304 , GRCh38.p12 chr2: 27,101,385-27,101,436 CGREF1
    nsv4400620copy number variation1nstd174human GRCh37 chr2: 27,324,312-27,324,390 , GRCh38.p12 chr2: 27,101,444-27,101,522 CGREF1
    nsv4397750copy number variation1nstd174human GRCh37 chr2: 27,314,661-27,324,121 , GRCh38.p12 chr2: 27,091,793-27,101,253 KHK, CGREF1
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