Table 1 Characteristics of study participants carrying copy number variations (duplications and deletions).
Case No | Sex | Location | CNVs | Change | Genes | IGE Syndrome | |
|---|---|---|---|---|---|---|---|
| Â | Â | Â | Start (bp)-Stop (bp) | Size (kb) | Â | Â | Â |
1193 | F | 6p12.1 | 55718462-55774293 | 55.8 | Duplication | BMP5 | Epi |
241 | M | 6p12.1 | 55678636-55774293 | 95.6 | Duplication | BMP5 | Epi |
1190 | F | 6p12.1 | 55722611-55774293 | 51.6 | Duplication | BMP5 | Epi |
494 | M | 6p12.1 | 55691753-55774293 | 82.5 | Duplication | BMP5 | Epi+MR |
440 | F | 6p12.1 | 55726917-55778628 | 51.7 | Duplication | BMP5 | JME |
1090 | F | 7q32.3 | 130860344-130924315 | 63.9 | Deletion | PODXL | Epi |
1186 | M | 7q32.3 | 130864738-130924315 | 59.5 | Deletion | PODXL | JME |
495 | F | 7q32.3 | 130864738-130921416 | 56.6 | Deletion | PODXL | Epi+MR |