Distribution of GTGT and NCF1 CNV in normal and CGD populations
| GTGT/(GTGT + ΔGT) . | 0/4 . | 0/5 . | 0/6 . | 0/7 . | 1/5 . | 1/6 . | 1/7 . | 2/4 . | 2/5 . | 2/6 . | 2/7 . | 3/6 . | 3/7 . | 4/6 . | Total . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All normals, n (%) | 1 (0.4) | 4 (1.6) | 195 (79.2) | 6 (2.4) | 36 (14.7) | 4 (1.6) | 246 | ||||||||
| p47phox CGD, n (%) | 1 (0.7) | 19 (14.1) | 91 (67.4) | 2 (1.5) | 8 (5.9) | 1 (0.8) | 12 (8.9) | 1 (0.7) | 135 | ||||||
| Obligate p47phox carrier, n (%) | 4 (8.7) | 32 (69.6) | 1 (2.2) | 8 (17.4) | 1 (2.2) | 46 | |||||||||
| p47phox kindred, n (%) | 1 (10.0) | 4 (40.0) | 5 (50.0) | 10 | |||||||||||
| Other CGD patients, carriers, and kindred, n (%) | 4 (1.4) | 214 (77.3) | 1 (0.4) | 53 (19.1) | 1 (0.4) | 4 (1.4) | 277 |
| GTGT/(GTGT + ΔGT) . | 0/4 . | 0/5 . | 0/6 . | 0/7 . | 1/5 . | 1/6 . | 1/7 . | 2/4 . | 2/5 . | 2/6 . | 2/7 . | 3/6 . | 3/7 . | 4/6 . | Total . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All normals, n (%) | 1 (0.4) | 4 (1.6) | 195 (79.2) | 6 (2.4) | 36 (14.7) | 4 (1.6) | 246 | ||||||||
| p47phox CGD, n (%) | 1 (0.7) | 19 (14.1) | 91 (67.4) | 2 (1.5) | 8 (5.9) | 1 (0.8) | 12 (8.9) | 1 (0.7) | 135 | ||||||
| Obligate p47phox carrier, n (%) | 4 (8.7) | 32 (69.6) | 1 (2.2) | 8 (17.4) | 1 (2.2) | 46 | |||||||||
| p47phox kindred, n (%) | 1 (10.0) | 4 (40.0) | 5 (50.0) | 10 | |||||||||||
| Other CGD patients, carriers, and kindred, n (%) | 4 (1.4) | 214 (77.3) | 1 (0.4) | 53 (19.1) | 1 (0.4) | 4 (1.4) | 277 |