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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
    nsv5972737insertion1nstd209human GRCh38 chr14: 69,264,819-69,264,819 , GRCh37.p13 chr14: 69,731,536-69,731,536 GALNT16
    nsv5946159copy number variation1nstd209human GRCh38 chr14: 69,353,244-69,353,297 , GRCh37.p13 chr14: 69,819,961-69,820,014 GALNT16
    nsv5944301copy number variation1nstd209human GRCh38 chr14: 69,308,217-69,308,419 , GRCh37.p13 chr14: 69,774,934-69,775,136 GALNT16
    nsv5942449copy number variation1nstd209human GRCh38 chr14: 69,375,875-69,376,137 , GRCh37.p13 chr14: 69,842,592-69,842,854 GALNT16
    nsv5725728mobile element insertion1nstd211human GRCh38 chr14: 69,307,759-69,307,759 , GRCh37.p13 chr14: 69,774,476-69,774,476 GALNT16
    nsv5725124mobile element insertion1nstd211human GRCh38 chr14: 69,307,755-69,307,755 , GRCh37.p13 chr14: 69,774,472-69,774,472 GALNT16
    nsv5657203insertion1nstd207human GRCh38 chr14: 69,313,619-69,313,619 , GRCh37.p13 chr14: 69,780,336-69,780,336 GALNT16
    nsv5555868mobile element insertion1nstd206human GRCh38 chr14: 69,307,759-69,307,810 , GRCh37.p13 chr14: 69,774,476-69,774,527 GALNT16
    nsv5505971copy number variation1nstd206human GRCh38 chr14: 69,308,219-69,308,420 , GRCh37.p13 chr14: 69,774,936-69,775,137 GALNT16
    nsv5503027copy number variation1nstd206human GRCh38 chr14: 69,336,089-69,336,160 , GRCh37.p13 chr14: 69,802,806-69,802,877 GALNT16
    nsv5501412copy number variation1nstd206human GRCh38 chr14: 69,274,120-69,277,013 , GRCh37.p13 chr14: 69,740,837-69,743,730 GALNT16
    nsv5500587copy number variation1nstd206human GRCh38 chr14: 69,328,302-69,328,359 , GRCh37.p13 chr14: 69,795,019-69,795,076 GALNT16
    nsv5498451copy number variation1nstd206human GRCh38 chr14: 69,348,632-69,349,382 , GRCh37.p13 chr14: 69,815,349-69,816,099 GALNT16
    nsv5497940copy number variation1nstd206human GRCh38 chr14: 69,313,595-69,313,766 , GRCh37.p13 chr14: 69,780,312-69,780,483 GALNT16
    nsv5390266copy number variation3nstd186human GRCh37 chr14: 69,780,312-69,780,483 , GRCh38.p12 chr14: 69,313,595-69,313,766 GALNT16
    nsv5357365translocation1nstd200human GRCh38 chr14: 69,308,219-69,308,219 , GRCh38 chr14: 69,308,420-69,308,420 , GRCh37.p13 chr14: 69,774,936-69,774,936 , GRCh37.p13 chr14: 69,775,137-69,775,137 GALNT16
    nsv5331100translocation1nstd200human GRCh37 chr14: 69,774,936-69,774,936 , GRCh37 chr14: 69,775,137-69,775,137 , GRCh38.p12 chr14: 69,308,420-69,308,420 , GRCh38.p12 chr14: 69,308,219-69,308,219 GALNT16
    nsv5322496translocation1nstd204human GRCh38.p13 chr14: 69,308,219-69,308,219 , GRCh38.p13 chr14: 69,308,420-69,308,420 , GRCh37.p13 chr14: 69,774,936-69,774,936 , GRCh37.p13 chr14: 69,775,137-69,775,137 GALNT16
    nsv5307059copy number variation1nstd204human GRCh38.p13 chr14: 69,313,595-69,313,766 , GRCh37.p13 chr14: 69,780,312-69,780,483 GALNT16
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