Table 2. Burden analysis of large CNVs comparing SZ vs BD cases and BD cases vs controls (Con).
| Size range | CNV type | BD | SZ | Con | P-value, SZ v BD (% excess) | P-value, BD v Con (% excess) |
|---|---|---|---|---|---|---|
| CNV freq (n CNV) | CNV freq (n CNV) | CNV freq (n CNV) | ||||
| 500 kb–1 Mb | Del | 1.1% (29) | 1.3% (90) | 1.2% (102) | 0.48 | 0.92 |
| Dup | 4.4% (114) | 5.5% (377) | 4.5% (401) | 0.045 | 0.79 | |
| >1 Mb | Del | 0.62% (16) | 1.5% (105) | 0.61% (54) | 9 × 10−4 | 1 |
| Dup | 2.5% (65) | 2.6% (180) | 1.9% (168) | 0.77 | 0.061 |
Abbreviations: CNV, copy number variations; BD, bipolar disorder; Del, deletions; Dup, duplications; SZ, schizophrenia.
CNVs are stratified by type (deletions and duplications) and size (500 kb–1 Mb and >1 Mb).