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Items: 1 to 20 of 89

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885850copy number variation1nstd209human GRCh38 chr2: 6,833,043-6,845,995 , GRCh37.p13 chr2: 6,973,174-6,986,126 CMPK2, NRIR
    nsv5833103copy number variation1nstd209human GRCh38 chr2: 6,833,035-6,845,909 , GRCh37.p13 chr2: 6,973,166-6,986,040 NRIR, CMPK2
    nsv5440731copy number variation1nstd206human GRCh38 chr2: 6,833,045-6,845,996 , GRCh37.p13 chr2: 6,973,176-6,986,127 CMPK2, NRIR
    nsv5357606translocation1nstd200human GRCh38 chr2: 6,833,045-6,833,045 , GRCh38 chr2: 6,845,996-6,845,996 , GRCh37.p13 chr2: 6,973,176-6,973,176 , GRCh37.p13 chr2: 6,986,127-6,986,127 NRIR, CMPK2
    nsv5288561copy number variation1nstd204human GRCh37.p13 chr2: 6,973,166-6,986,136 , GRCh38.p13 chr2: 6,833,035-6,846,005 NRIR, CMPK2
    nsv5206061copy number variation1nstd204human GRCh38.p13 chr2: 6,832,810-6,845,709 , GRCh37.p13 chr2: 6,972,941-6,985,840 CMPK2, NRIR
    nsv5200719copy number variation1nstd204human GRCh38.p13 chr2: 6,833,001-6,846,000 , GRCh37.p13 chr2: 6,973,132-6,986,131 CMPK2, NRIR
    nsv5068005mobile element insertion1nstd203human GRCh38 chr2: 6,827,666-6,827,675 , GRCh37.p13 chr2: 6,967,797-6,967,806 NRIR
    nsv4770080copy number variation1nstd200human GRCh37 chr2: 6,973,176-6,986,127 , GRCh38.p12 chr2: 6,833,045-6,845,996 NRIR, CMPK2
    nsv4674461copy number variation1nstd102humanUncertain significance GRCh37 chr2: 6,750,679-7,030,957 , GRCh38.p12 chr2: 6,610,547-6,890,826 MIR7515, MIR7515HG, 6 more genes
    nsv4595734copy number variation1nstd183human GRCh37 chr2: 6,977,519-6,983,348 , GRCh38.p12 chr2: 6,837,388-6,843,217 CMPK2, NRIR
    nsv4595733copy number variation1nstd183human GRCh37 chr2: 6,972,214-6,980,931 , GRCh38.p12 chr2: 6,832,083-6,840,800 CMPK2, NRIR
    nsv4586502copy number variation1nstd183human GRCh37 chr2: 6,973,174-6,986,127 , GRCh38.p12 chr2: 6,833,043-6,845,996 NRIR, CMPK2
    nsv4454966copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,770-7,502,796 , GRCh38.p12 chr2: 12,770-7,362,665 LINC01810, ADI1, 83 more genes
    nsv4406442copy number variation1nstd174human GRCh37 chr2: 6,972,997-6,986,299 , GRCh38.p12 chr2: 6,832,866-6,846,168 CMPK2, NRIR
    nsv4325167mobile element insertion1nstd166human GRCh37.p13 chr2: 6,978,966-6,978,966 , GRCh38.p12 chr2: 6,838,835-6,838,835 CMPK2, NRIR
    nsv4070801copy number variation1nstd166human GRCh37.p13 chr2: 6,942,296-7,124,707 , GRCh38.p12 chr2: 6,802,165-6,984,576 RNF144A, GRASLND, 3 more genes
    nsv4055549copy number variation1nstd166human GRCh37.p13 chr2: 6,973,176-6,986,127 , GRCh38.p12 chr2: 6,833,045-6,845,996 NRIR, CMPK2
    nsv3909560copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 4,442,179-7,690,419 , GRCh37 chr2: 4,464,304-7,772,968 , GRCh38 chr2: 4,416,714-7,632,837 SOX11, RNF144A, 36 more genes
    nsv3908896copy number variation1nstd102humanPathogenic GRCh37 chr2: 6,671,304-16,243,921 , GRCh38 chr2: 6,531,172-16,103,799 , NCBI36 chr2: 6,588,755-16,161,372 RNU6-1288P, MIR7515HG, 138 more genes
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