Table 1.
Results of global rare CNV burden analysis
| Type | Size (Kb) | RATE (case/control) | P value RATEa | PROP (case/control) | P value PROPb |
|---|---|---|---|---|---|
| Duplications and deletions | 100–200 | 2.05/0.50 | 0.02 | 0.25/0.22 | 0.17 |
| 200–500 | 0.68/0.14 | 0.05 | 0.07/0.10 | 0.93 | |
| > 500 | 0.05/0.01 | 0.08 | 0.02/0.01 | 0.21 | |
| All | 2.78/0.66 | 0.03 | 0.29/0.28 | 0.42 | |
| Deletions | 100–200 | 1.26/0.28 | 0.04 | 0.12/0.13 | 0.61 |
| 200–500 | 0.49/0.07 | 0.06 | 0.05/0.06 | 0.73 | |
| > 500 | 0.03/0 | – | 0.01/0 | – | |
| All | 1.78/0.35 | 0.04 | 0.15/0.16 | 0.68 | |
| Duplications | 100–200 | 0.79/0.23 | 0.13 | 0.16/0.11 | 0.02 |
| 200–500 | 0.19/0.07 | 0.24 | 0.03/0.05 | 0.94 | |
| > 500 | 0.013/0.012 | 0.62 | 0.013/0.012 | 0.62 | |
| All | 0.99/0.31 | 0.14 | 0.18/0.16 | 0.16 |
a,b is the numbers of rare CNV segments per person and the proportion of sample with one or more rare CNV segment, respectively