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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5906553copy number variation1nstd209human GRCh38 chr2: 240,685,087-240,685,233 , GRCh37.p13 chr2: 241,624,504-241,624,650 LOC285191, AQP12B
    nsv5906441copy number variation1nstd209human GRCh38 chr2: 240,674,552-240,770,303 , GRCh37.p13 chr2: 241,613,969-241,709,720 LOC285191, KIF1A, 2 more genes
    nsv5832580copy number variation1nstd209human GRCh38 chr2: 240,685,350-240,688,168 , GRCh37.p13 chr2: 241,624,767-241,627,585 LOC285191, AQP12B
    nsv5832265copy number variation2nstd209human GRCh38 chr2: 240,682,428-240,685,818 , GRCh37.p13 chr2: 241,621,845-241,625,235 LOC285191, AQP12B
    nsv5667536inversion1nstd207human GRCh38 chr2: 240,674,168-240,700,557 , GRCh37.p13 chr2: 241,613,585-241,639,974 LOC285191, AQP12A, 1 more genes
    nsv5618384insertion1nstd207human GRCh38 chr2: 240,680,882-240,680,882 , GRCh37.p13 chr2: 241,620,299-241,620,299 AQP12B
    nsv5610759insertion1nstd207human GRCh38 chr2: 240,675,100-240,675,100 , GRCh37.p13 chr2: 241,614,517-241,614,517 AQP12B
    nsv5584271copy number variation1nstd207human GRCh38 chr2: 240,685,087-240,685,233 , GRCh37.p13 chr2: 241,624,504-241,624,650 AQP12B, LOC285191
    nsv5450984copy number variation1nstd206human GRCh38 chr2: 240,674,552-240,770,308 , GRCh37.p13 chr2: 241,613,969-241,709,725 KIF1A, AQP12A, 2 more genes
    nsv5446373copy number variation1nstd206human GRCh38 chr2: 240,681,023-240,712,047 , GRCh37.p13 chr2: 241,620,440-241,651,464 LOC285191, AQP12A, 2 more genes
    nsv5381323copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,201,756-243,048,760 , GRCh38.p12 chr2: 236,293,113-242,106,609 LRRFIP1, GPR35, 133 more genes
    nsv5366918translocation1nstd200human GRCh38 chr2: 240,684,467-240,684,467 , GRCh38 chr2: 240,674,278-240,674,278 , GRCh37.p13 chr2: 241,623,884-241,623,884 , GRCh37.p13 chr2: 241,613,695-241,613,695 AQP12B, LOC285191
    nsv5336663translocation1nstd200human GRCh37 chr2: 241,623,884-241,623,884 , GRCh37 chr2: 241,613,695-241,613,695 , GRCh38.p12 chr2: 240,674,278-240,674,278 , GRCh38.p12 chr2: 240,684,467-240,684,467 LOC285191, AQP12B
    nsv5211306copy number variation1nstd204human GRCh38.p13 chr2: 240,682,301-240,685,200 , GRCh37.p13 chr2: 241,621,718-241,624,617 LOC285191, AQP12B
    nsv5208418copy number variation1nstd204human GRCh38.p13 chr2: 240,681,301-240,682,100 , GRCh37.p13 chr2: 241,620,718-241,621,517 AQP12B
    nsv5201891copy number variation1nstd204human GRCh38.p13 chr2: 240,682,428-240,686,418 , GRCh37.p13 chr2: 241,621,845-241,625,835 AQP12B, LOC285191
    nsv4914154copy number variation1nstd200human GRCh38 chr2: 240,674,552-240,770,308 , GRCh37.p13 chr2: 241,613,969-241,709,725 LOC285191, AQP12A, 2 more genes
    nsv4914153copy number variation1nstd200human GRCh38 chr2: 240,644,239-240,686,982 , GRCh37.p13 chr2: 241,583,656-241,626,399 LOC100420500, AQP12B, 1 more genes
    nsv4914149copy number variation1nstd200human GRCh38 chr2: 240,522,069-240,756,640 , GRCh37.p13 chr2: 241,461,486-241,696,057 AQP12A, LOC100420500, 9 more genes
    nsv4804739copy number variation1nstd200human GRCh37 chr2: 241,613,969-241,709,725 , GRCh38.p12 chr2: 240,674,552-240,770,308 KIF1A, AQP12A, 2 more genes
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