Table 2.
CNVs classified as “unlikely modifiers” since they were apparently not associated with phenotypic severity.
| Polymorphic CNVs | Breakpoints (bp) |
Gene content | MeCP2_B promoter hits rank |
MeCP2_C promoter hits rank |
897 C/ 896 Z (Ex 3/4 del) |
138 C/ 139 Z (c.1157del32) |
565 C/ 601 Z (c.1163del26) |
185 C/ 119 Z (p.R306C) |
421 C/ 109 Z (c.1159del44) |
402 C/ 368 Z (p.R133C) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1q44{58 kb} | 246,794,522- 246,852,126 |
OR2T34 | 22567 | 14244 | Dup Z | Del C | Del C | Del Z | ||
| OR2T10 | 22348 | 8566 | ||||||||
| 2p11{494 kb} | 89,401,838- 89,895,566 |
*IGKV1-16D | - | - | Del Z | |||||
| 3q26{104 kb} | 163,997,228- 164,101,776 |
/ | - | - | Del C | Del Z | Del C/ Del Z |
|||
| 3q29{36 kb} | 196,905,767- 196,942,158 |
MUC20 | 17727 | 12873 | Dup C | DupC/ DupZ |
Dup C | Dup C | ||
| 4q13.2{108 kb} | 69,057,735- 69,165,814 |
UGT2B17 | 21719 | 18336 | Dup C | Del Z | Del C | |||
| 6p21.32{65 kb} | 29,939,288- 30004,636 |
HCG4P6 | Del C | Del Z | ||||||
| 6p21.33{77 kb} | 32,595,402- 32,672,983 |
HLA-DRB5 | Dup Z | Amp C | Amp C/ Amp Z |
|||||
| HLA-DRB1 | 11824 | 21879 | ||||||||
| 8p11.23{143 kb} | 39,356,595- 39,499,752 |
ADAM5P | 14070 | 2916 | Dup C | Dup C | *Amp Z | Amp C/ Amp Z |
Amp C/ Amp Z |
|
| 10q11.22{144 kb} | 47,017,598- 47,161,232 |
/ | - | - | Dup C | Dup Z | Dup Z | |||
| 14q11{860 kb} | 18,624,383- 19,484,013 |
OR11H13P | Del C | Dup C | ||||||
| OR4Q3 | 23539 | 330 | ||||||||
| OR4M1 | 24054 | 4686 | ||||||||
| OR4N2 | 23383 | 7030 | ||||||||
| OR4K2 | 21957 | 3567 | ||||||||
| OR4K5 | 21814 | 7944 | ||||||||
| OR4K1 | 23684 | 162 | ||||||||
| 15q11.2{727 kb} | 18,810,004- 19,537,035 |
/ | - | - | Del C | Del C | Del Z | Del C | ||
| 16p11.2{220 kb} | 28,732,295- 28,952,218 |
ATXN2L | - | - | Dup C | Dup Z | ||||
| TUFM | 7097 | 3848 | ||||||||
| SH2B1 | 12675 | 12680 | ||||||||
| ATP2A1 | 15182 | 23566 | ||||||||
| RABEP2 | 10298 | 16794 | ||||||||
| CD19 | 18469 | 15604 | ||||||||
| NFATC2IP | 23326 | 1627 | ||||||||
| SPNS1 | 1393 | 20317 | ||||||||
| LAT | 15145 | 14271 | ||||||||
| 17q21.31{163 kb} | 41,544,224- 41,706,870 |
KIAA1267 | - | - | Amp C/ Dup Z |
Dup Z | Dup Z | |||
| 22q11.23{30 kb} | 22,681,995- 22,712,211 |
GSTT1 | 9984 | 14237 | Dup Z | Dup C | Dup Z |
C: classic; Z: Z-RTT; Del: deletion; Dup: duplication; Amp: amplification.
*
16 isoforms