Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
Figure 2
Genome-wide burden of rare CNVs based on size in brain malformation patients and controls of Caucasian ethnicity.
There were 205 ACC (panel A), 82 ACC-PLUS (panel B), 123 ACC-ONLY (panel C), 180 CBLH (panel D), and 121 PMG (panel E) patients, and 1,953 controls. In each malformation we examined all rare CNVs that were at least 30 kb (all CNVs≥30 kb), followed by those that were at least 1 Mb (≥1 Mb), those that were at least 500 kb but less than 1 Mb (500 kb–1 Mb), those that were at least 100 kb but less than 500 kb (100–500 kb), and those that were at least 30 kb but less than 100 kb (30–100 kb). Deletions are represented by “−” and duplications by “+”. Significant differences between patients (dark bars) and controls (light bars) are shown by black lines/hooks that connect patients and controls with numbers listed above. The numbers correspond to corrected p-values, odds ratios (OR), and 95% confidence intervals (CI) provided in the lower right. Asterisk: while the corrected p-value was not significant (0.09), the odds ratio (2.90) and 95% confident interval (1.49–5.65) were both highly suggestive of a significant difference.