CNV burden analysis of large (>100kb) CNVs on gonosomes and autosomes in familial cases versus healthy individuals.

CNV burden in familial CoA was significantly higher for deletions >100kb (p<0.01) and significantly lower for duplications > 100 kb (p<0.01). The total number of CNVs were higher in controls. No significant difference was observed between males and females. Fisher ‘s exact test was calculated from a contingency table with the total number of CNV segments, with a size between 10 and 100 kb and those larger than 100 kb in both cases and controls. CNV burden analysis of large (>100kb) CNVs on gonosomes and autosomes in familial cases versus healthy individuals.