Large structural variants identified in the CFTR by targeted resequencing
| Sample | SV | Predicted breakpoints | Validated breakpoints | Reference |
|---|---|---|---|---|
| 47FQ | CFTRdele20 | chr7:117282464-117283245 | chr7:117282468-117283248 | 18 |
| 69FQ | CFTRdele2,3 | chr7:117138362-117159442 | chr7:117138367-117159446 | 19 |
| 70FQ | CFTRdupProm-3 | chr7:117113959-117149700 | chr7:117113985-117149644 | 10 |
| 78FQ | CFTRdele22-24 | chr7:117300851-117310305 | chr7:117300852-117310305 | 20 |
| 83FQ | CFTR50kbdel | INV chr7:117169861-117254986+DELs chr7:117170000-117182000+chr7:117217000-117255000 | INV chr7:117169862/117169876-117255003+DELs chr7:117169908-117180511+chr7:117216401-117254987 | 21 and this study |
| 88FQ | CFTRdele17a-18 | chr7:117247975-117256874 | chr7:117247980-117256878 | 22 |
| 93FQ | CFTRdele22 | chr7:117267155-117269054 | chr7:117267155-117269054 | This study |
CFTR, cystic fibrosis transmembrane regulator; SV, structural variant.