Table 1.
CNV characteristics.
Figure 1.
Whole-genome distribution of CNV burden.
A Manhattan plot showing CNV burden among ASD subjects in 10 kb regions continuously distributed across the human genome. A dashed horizontal line indicate the burden score of 6.5 (0.995 quantile) that was used a threshold to determine the top ranked ASD susceptibility CNV loci.
Figure 2.
Physical locations of the top ranked 11 ASD susceptibility CNV loci on Human G-banded ideogram.
CNV loci length and width are proportional to their genomic size and burden score respectively. Green, red, and blue are for CNV loci containing primarily copy number gains (Duplications), copy number losses (Deletions), or both Duplications and Deletions, respectively.
Table 2.
Top ASD susceptibility CNV loci.
Figure 3.
ASD susceptibility CNV locus on human chromosome 16.
The number of individuals with duplications (green) and deletions (red) are plotted along human chromosome 16p11.2. RefSeq Genes overlapping with this region are depicted in blue rectangles. Genes that have been associated with ASD according to AutDB [18] are colored in orange.
Figure 4.
ASD susceptibility CNV loci on human chromosome 15
The number of individuals with duplications (green) and deletions (red) are plotted for both ASD cases (continuous lines) and controls (broken lines, on a log2 scale) along human chromosome 15q11.2-13.3. RefSeq genes overlapping with these regions are depicted in blue rectangles. Genes that have been associated with ASD according to AutDB [18] are colored in orange. The variation in CNV burden along the 15q11.2 – 13.3 region, suggests three distinct ASD susceptibility loci: Locus 1 within breakpoints (BP) 1-2, Locus 2 within BPs 2-3, and Locus 3 within BPs 4-5.
Figure 5.
ASD susceptibility CNV loci on human chromosome 22.
The number of individuals with duplications (green) and deletions (red) are plotted for both ASD cases (continuous lines) and controls (broken lines, on a log2 scale) along human chromosome 22q11.21-13.33. RefSeq genes overlapping with these regions are depicted in blue rectangles. Genes that have been associated with ASD according to AutDB [18] are colored in orange. (A) The CNV locus on 22q11.21 contains primarily copy number gains (duplications). A black arrow indicates the peak in duplications count due to the CNV data from Glessner et. al. (B) The CNV locus on 22q13.32-13.33 contains primarily copy number losses (deletions).