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Items: 1 to 20 of 342

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5970808insertion1nstd209human GRCh38 chr14: 64,751,927-64,751,927 , GRCh37.p13 chr14: 65,218,645-65,218,645 SPTB
    nsv5940093copy number variation1nstd209human GRCh38 chr14: 64,751,065-64,751,116 , GRCh37.p13 chr14: 65,217,783-65,217,834 SPTB
    nsv5938856copy number variation1nstd209human GRCh38 chr14: 64,865,026-64,865,113 , GRCh37.p13 chr14: 65,331,744-65,331,831 SPTB
    nsv5931820copy number variation1nstd209human GRCh38 chr14: 64,748,163-64,748,260 , GRCh37.p13 chr14: 65,214,881-65,214,978 SPTB, PLEKHG3
    nsv5928903copy number variation1nstd209human GRCh38 chr14: 64,834,513-64,834,571 , GRCh37.p13 chr14: 65,301,231-65,301,289 SPTB
    nsv5865175copy number variation1nstd209human GRCh38 chr14: 64,802,383-64,805,023 , GRCh37.p13 chr14: 65,269,101-65,271,741 SPTB
    nsv5720681mobile element insertion1nstd211human GRCh38 chr14: 64,832,896-64,832,896 , GRCh37.p13 chr14: 65,299,614-65,299,614 SPTB
    nsv5704319mobile element insertion1nstd211human GRCh38 chr14: 64,785,287-64,785,287 , GRCh37.p13 chr14: 65,252,005-65,252,005 MIR7855, SPTB
    nsv5664074insertion1nstd207human GRCh38 chr14: 64,822,372-64,822,372 , GRCh37.p13 chr14: 65,289,090-65,289,090 SPTB
    nsv5588762copy number variation1nstd207human GRCh38 chr14: 64,748,163-64,748,260 , GRCh37.p13 chr14: 65,214,881-65,214,978 PLEKHG3, SPTB
    nsv5556293mobile element insertion1nstd206human GRCh38 chr14: 64,832,896-64,832,947 , GRCh37.p13 chr14: 65,299,614-65,299,665 SPTB
    nsv5509809copy number variation1nstd206human GRCh38 chr14: 64,865,026-64,865,117 , GRCh37.p13 chr14: 65,331,744-65,331,835 SPTB
    nsv5508326copy number variation1nstd206human GRCh38 chr14: 64,748,166-64,748,261 , GRCh37.p13 chr14: 65,214,884-65,214,979 PLEKHG3, SPTB
    nsv5431984mobile element insertion1nstd206human GRCh38 chr14: 64,785,287-64,785,338 , GRCh37.p13 chr14: 65,252,005-65,252,056 SPTB, MIR7855
    nsv5357334translocation1nstd200human GRCh38 chr14: 64,865,117-64,865,117 , GRCh38 chr14: 64,865,026-64,865,026 , GRCh37.p13 chr14: 65,331,744-65,331,744 , GRCh37.p13 chr14: 65,331,835-65,331,835 SPTB
    nsv5332036translocation1nstd200human GRCh37 chr14: 65,331,744-65,331,744 , GRCh37 chr14: 65,331,835-65,331,835 , GRCh38.p12 chr14: 64,865,026-64,865,026 , GRCh38.p12 chr14: 64,865,117-64,865,117 SPTB
    nsv5329431translocation1nstd204human GRCh37.p13 chr14: 65,214,884-65,214,884 , GRCh37.p13 chr14: 65,214,979-65,214,979 , GRCh38.p13 chr14: 64,748,261-64,748,261 , GRCh38.p13 chr14: 64,748,166-64,748,166 SPTB, PLEKHG3
    nsv5157462mobile element insertion1nstd203human GRCh38 chr14: 64,780,668-64,780,713 , GRCh37.p13 chr14: 65,247,386-65,247,431 SPTB
    nsv5153487mobile element insertion1nstd203human GRCh38 chr14: 64,865,265-64,865,277 , GRCh37.p13 chr14: 65,331,983-65,331,995 SPTB
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