Table 2. Summary information for CNVRs identified in group 1.
Heritable | Linked | ||||
---|---|---|---|---|---|
All CNVRs | (P≤1.702E-5) | (P≤0.05) | (P≤1.702E-5) | Novel | |
Total | 2937 | 2776 (94.5%) | 920 (31.3%) | 431 (14.7%) | 727 (24.8%) |
Deletion | 1453 (49.5%) | 1373 | 505 | 235 | 403 |
Duplication | 464 (15.8%) | 437 | 178 | 68 | 110 |
Complex | 131 (4.5%) | 128 | 36 | 21 | 1 |
Overlapping Variants | 48 (1.6%) | 45 | 16 | 7 | 4 |
Unknown | 841 (28.6%) | 793 | 185 | 100 | 209 |
Within 50 kb of disease SNP from NHGRI | 409 (13.9%) | 390 | 109 | 44 | 95 |
Novel | 727 (24.8%) | 670 | 146 | 32 | – |
1 Pedigree | 1201 (40.9%) | 1115 | 273 | 61 | 399 |
>1 Pedigree | 1736 (59.1%) | 1661 | 647 | 370 | 328 |
Abbreviation: CNVR, copy number variable region.