CNV burden analysis of large (>100 kb) CNVs on gonosomes and autosomes in the sporadic CoA cohort.

Total number of CNVs on gonosomes and autosomes. CNV burden was significantly higher for large (>100kb) CNVs in male patients (p<0.01) on the X-chromosome. No changes were seen for the X-chromosome in females and on the autosomes. A one-sided 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 (>100 kb) CNVs on gonosomes and autosomes in the sporadic CoA cohort.

性染色体与常染色体上的拷贝数变异（Copy Number Variation，CNV）总数。男性患者X染色体上的大片段（>100kb）CNV负荷显著更高（p<0.01）。女性X染色体及常染色体上未观察到此类变化。本研究基于列联表（contingency table）开展单侧费希尔精确检验（Fisher's exact test），该列联表统计了病例组与对照组中，长度介于10~100kb以及大于100kb的CNV片段总数。
针对散发性CoA队列的性染色体与常染色体上大片段（>100kb）CNV负荷分析。