Table 1. Summary of disease cohorts and CNV analysis.
All | Total analyzed | Passed QC | Total CNVs | Average CNV size (bp) | Proportion of deletions | Proportion of CNVs disrupting genes | Average gene density |
Controls | 337 | 306 | 1,074 | 229,701 | 0.38 | 0.33 | 3.70 |
Dyslexia | 376 | 322 | 1,041 | 217,135 | 0.37 | 0.34 | 3.82 |
Autism (no ID) | 253 | 246 | 923 | 249,996 | 0.33 | 0.36 | 4.15 |
Autism (with ID) | 97 | 90 | 362 | 342,637 | 0.41 | 0.33 | 4.95 |
Combined Autism | 350 | 336 | 1,285 | 276,094 | 0.35 | 0.35 | 4.55 |
ID | 428 | 358 | 1,306 | 442,519 | 0.33 | 0.38 | 6.12 |
ID/MCA | 73 | 73 | 380 | 637,004 | 0.36 | 0.39 | 8.20 |
Combined ID cohort | 501 | 431 | 1,686 | 486,353 | 0.34 | 0.38 | 7.16 |
For breaking genes, one or both of the CNV breakpoints should traverse a gene. CNV: Copy Number Variant; ID: Intellectual Disability; MCA: Multiple Congenital Anomalies; QC: Quality Control.