Table 1.
Comparison of Global CNV Counts between 192 RHD Cases and 4,733 Controls Matched for Ethnicity and Genotyping Platform
| Global CNV Metrics | RHD Cases (n = 192) | Controls (n = 4,733) | p Value (Exact Test) |
|---|---|---|---|
| Total number of rare CNVs | ncnv = 351 | ncnv = 7,970 | - |
| Size Distribution of All CNVs | |||
| 100–250 kb | 168 (47.9%) | 4,908 (61.6%) | 4.8 × 10−11 |
| 250–500 kb | 107 (30.5%) | 2,234 (28.0%) | |
| 500–1,000 kb | 52 (14.8%) | 673 (8.4%) | |
| >1,000 kb | 24 (6.8%) | 155 (1.9%) | |
| Size Distribution of All Deletions | |||
| 100–250 kb | 77 (56.2%) | 3,251 (66.9%) | 1.2 × 10−11 |
| 250–500 kb | 28 (20.4%) | 1,238 (25.5%) | |
| 500–1,000 kb | 16 (11.7%) | 317 (6.5%) | |
| >1,000 kb | 16 (11.7%) | 54 (1.1%) | |
| Size Distribution of Gene-Disrupting Deletions | |||
| 100–250 kb | 41 (47.1%) | 2,430 (65.6%) | 7.9 × 10−13 |
| 250–500 kb | 20 (23.0%) | 990 (26.7%) | |
| 500–1,000 kb | 11 (12.6%) | 240 (6.5%) | |
| >1,000 kb | 15 (17.2%) | 47 (1.3%) | |
| Size Distribution of All Duplications | |||
| 100–250 kb | 91 (42.5%) | 1,657 (53.3%) | 0.011 |
| 250–500 kb | 79 (36.9%) | 996 (32.0%) | |
| 500–1,000 kb | 36 (16.8%) | 356 (11.4%) | |
| >1,000 kb | 8 (3.7%) | 101 (3.2%) | |
| Size Distribution of Gene-Disrupting Duplications | |||
| 100–250 kb | 65 (43.9%) | 1,255 (51.2%) | 0.010 |
| 250–500 kb | 44 (29.7%) | 802 (32.7%) | |
| 500–1,000 kb | 32 (21.6%) | 295 (12.0%) | |
| >1,000 kb | 7 (4.7%) | 97 (4.0%) | |
The following abbreviations are used: CNV, copy-number variant; and RHD, renal hypodysplasia.