TableĀ 2

Large structural variants identified in the CFTR by targeted resequencing

SampleSVPredicted breakpointsValidated breakpointsReference
47FQCFTRdele20chr7:117282464-117283245chr7:117282468-11728324818
69FQCFTRdele2,3chr7:117138362-117159442chr7:117138367-11715944619
70FQCFTRdupProm-3chr7:117113959-117149700chr7:117113985-11714964410
78FQCFTRdele22-24chr7:117300851-117310305chr7:117300852-11731030520
83FQCFTR50kbdelINV chr7:117169861-117254986+DELs chr7:117170000-117182000+chr7:117217000-117255000INV chr7:117169862/117169876-117255003+DELs chr7:117169908-117180511+chr7:117216401-11725498721 and this study
88FQCFTRdele17a-18chr7:117247975-117256874chr7:117247980-11725687822
93FQCFTRdele22chr7:117267155-117269054chr7:117267155-117269054This study
  • CFTR, cystic fibrosis transmembrane regulator; SV, structural variant.