Figure 3

Breakpoint analysis of HERV-mediated CNVs. (A) Representative Sanger sequencing trace of the deletion breakpoint region of patient 8. The patient’s breakpoint sequence is presented between the proximal and distal chromosome 11 reference sequences. The informative cis-morphisms that define the breakpoint uncertainty region are highlighted in yellow. (B) An analogous presentation of a deletion breakpoint for patient 9. Chr, chromosome; CNV, copy-number variation; HERV, human endogenous retrovirus.