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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5652431insertion1nstd207human GRCh38 chr12: 48,777,505-48,777,505 , GRCh37.p13 chr12: 49,171,288-49,171,288 ADCY6
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5504130copy number variation1nstd206human GRCh38 chr12: 48,784,292-48,784,352 , GRCh37.p13 chr12: 49,178,075-49,178,135 ADCY6
    nsv5501585copy number variation1nstd206human GRCh38 chr12: 48,772,916-48,772,968 , GRCh37.p13 chr12: 49,166,699-49,166,751 ADCY6
    nsv5316591copy number variation1nstd204human GRCh38.p13 chr12: 48,780,071-48,782,476 , GRCh37.p13 chr12: 49,173,854-49,176,259 ADCY6
    nsv5267689copy number variation1nstd204human GRCh38.p13 chr12: 48,780,186-48,782,385 , GRCh37.p13 chr12: 49,173,969-49,176,168 ADCY6
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972537copy number variation1nstd200human GRCh38 chr12: 48,788,633-48,789,132 , GRCh37.p13 chr12: 49,182,416-49,182,915 ADCY6, ADCY6-DT
    nsv4842820copy number variation1nstd200human GRCh37 chr12: 49,173,857-49,176,250 , GRCh38.p12 chr12: 48,780,074-48,782,467 ADCY6
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 SPATS2, SPMIP11, 62 more genes
    nsv4578649copy number variation1nstd102humanPathogenic GRCh37 chr12: 49,034,325-49,468,966 , GRCh38.p12 chr12: 48,640,542-49,075,183 WNT1, SPMIP11, 29 more genes
    nsv4550745insertion1nstd166human GRCh37.p13 chr12: 49,171,238-49,171,238 , GRCh38.p12 chr12: 48,777,455-48,777,455 ADCY6
    nsv4539743insertion1nstd166human GRCh37.p13 chr12: 49,171,278-49,171,278 , GRCh38.p12 chr12: 48,777,495-48,777,495 ADCY6
    nsv4527593copy number variation1nstd166human GRCh37.p13 chr12: 49,166,276-49,166,486 , GRCh38.p12 chr12: 48,772,493-48,772,703 ADCY6, MIR4701
    nsv4527238copy number variation1nstd166human GRCh37.p13 chr12: 49,171,278-49,171,349 , GRCh38.p12 chr12: 48,777,495-48,777,566 ADCY6
    nsv4457182copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,944,713-49,265,377 , GRCh38.p12 chr12: 48,550,930-48,871,594 SNORA2A, LALBA, 17 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4205271copy number variation1nstd166human GRCh37.p13 chr12: 49,182,758-49,182,828 , GRCh38.p12 chr12: 48,788,975-48,789,045 ADCY6, ADCY6-DT
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