Figure 5. Burden of rare CNVs in 872 probands and 872 matched siblings.
A) Bar graph showing the log (10) number of genes present in all rare CNVs binned by size (in Mb), with probands shown in green and siblings in purple. B) The data from A with confirmed de novo events excluded leaving only CNVs transmitted from a parent to offspring. C) Only confirmed de novo events are shown. D-F) The ratio (y-axis) of number of genes in probands vs. siblings for specific size thresholds (x-axis): D) all rare CNVs (transmitted and de novo); E) transmitted events; F) de novo events only. G-K) The total number of transmitted deletions (red) and duplications (blue) for probands and siblings for varying categories of CNV (shown above the graph). Definitions are described in supplementary methods. P-values (noted above the bars) are calculated using the Sign test and are not corrected for multiple comparisons. L-P) As in G-K, with number of RefSeq genes within the CNVs (y-axis). P-values (noted above the bars) are estimated using a two-tailed paired t-test and are not corrected for approximately 3,000 comparisons.