Table 2. Summary statistics of rare CNVs found in ASD and PDx control data sets.
| Unrelated ASD Cases | PDx Controls | |
|---|---|---|
| No. samples with ≥1 rare CNV | 630 | 896 |
| No. CNVs | 1884 | 2299 |
| Mean no. CNVs/sample ± SDa | 2.99 ± 1.69 | 2.57 ± 1.44 |
| Median no. CNVs/sample | 3 | 2 |
| Mean CNV size, kb ± SD | 109.79 ± 314.56 | 95.62 ± 215.74 |
| Median CNV size, kb | 28.74 | 30.43 |
| % gain/% loss | 39.81/60.19 | 44.04/55.96 |
| No. CNVs of size >1 Mb (%) | 30 (1.59) | 24 (1.04) |
| No. CNVs of size from 100 Kb to 1 Mb (%) | 362 (19.21) | 498 (21.66) |
| No. CNVs of size from <100 Kb (%) | 1492 (79.19) | 1777 (77.29) |
ASD, autism spectrum disorder; CNV, copy number variations; PDx, control cohort DNA samples.
a
We observed significant difference in average number of rare CNVs in ASD cases compared with PDx controls (one-tailed exact Wilcoxon test p value 0.002287).