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Items: 1 to 20 of 220

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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
    nsv5885012copy number variation1nstd209human GRCh38 chr2: 38,564,929-38,565,093 , GRCh37.p13 chr2: 38,792,071-38,792,235 HNRNPLL
    nsv5692283mobile element insertion1nstd211human GRCh38 chr2: 38,580,076-38,580,076 , GRCh37.p13 chr2: 38,807,218-38,807,218 HNRNPLL
    nsv5689089mobile element insertion1nstd211human GRCh38 chr2: 38,584,982-38,584,982 , GRCh37.p13 chr2: 38,812,124-38,812,124 HNRNPLL
    nsv5450266copy number variation1nstd206human GRCh38 chr2: 38,593,739-38,594,615 , GRCh37.p13 chr2: 38,820,881-38,821,757 HNRNPLL
    nsv5410625mobile element insertion1nstd206human GRCh38 chr2: 38,584,982-38,585,033 , GRCh37.p13 chr2: 38,812,124-38,812,175 HNRNPLL
    nsv5407750mobile element insertion1nstd206human GRCh38 chr2: 38,580,076-38,580,111 , GRCh37.p13 chr2: 38,807,218-38,807,253 HNRNPLL
    nsv5336910translocation1nstd200human GRCh37 chr2: 38,792,071-38,792,071 , GRCh37 chr2: 38,792,236-38,792,236 , GRCh38.p12 chr2: 38,564,929-38,564,929 , GRCh38.p12 chr2: 38,565,094-38,565,094 HNRNPLL
    nsv5065435mobile element insertion1nstd203human GRCh38 chr2: 38,584,968-38,584,982 , GRCh37.p13 chr2: 38,812,110-38,812,124 HNRNPLL
    nsv4776199copy number variation1nstd200human GRCh37 chr2: 38,809,794-38,810,657 , GRCh38.p12 chr2: 38,582,652-38,583,515 HNRNPLL
    nsv4728586copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,154,799-38,849,931 , GRCh38.p12 chr2: 37,927,656-38,622,789 RPLP0P6, LOC107985871, 15 more genes
    nsv4728394copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,012,532-39,548,268 , GRCh38.p12 chr2: 37,785,389-39,321,127 ATL2, LOC375196, 37 more genes
    nsv4466860mobile element insertion1nstd166human GRCh37.p13 chr2: 38,812,110-38,812,110 , GRCh38.p12 chr2: 38,584,968-38,584,968 HNRNPLL
    nsv4453019copy number variation4nstd102humanUncertain significance GRCh37 chr2: 38,791,220-38,861,082 , GRCh38.p12 chr2: 38,564,078-38,633,940 HNRNPLL
    nsv4450345copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,819,908-38,932,694 , GRCh38.p12 chr2: 38,592,766-38,705,552 HNRNPLL, GALM
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv4069078copy number variation1nstd166human GRCh37.p13 chr2: 38,815,261-38,815,698 , GRCh38.p12 chr2: 38,588,119-38,588,556 HNRNPLL
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