Inter-chromosomal complex SV. We detected an inter-chromosomal complex SV involving Chromosomes 2, 14, and 17 in subject 320 clones #4 and #8 from the frontal cortex. This SV entails a 13-bp deletion on Chromosome 2 into which segments from a farther region on Chromosome 2 (159 bp in length and inverted, green segment), Chromosome 17 (140 bp in length, yellow segment), and Chromosome 14 (159 bp in length, red segment) are inserted. (A) Replication model based on the breakpoints supported by the assembled contig is depicted by gray arrows. Location of PCR primers are indicated by blue (Ref) and brown (Alt) block arrows. (B) PCR validation confirmed the presence of the SV in both the clones. Blue arrows indicate the REF bands and brown arrows indicate the ALT bands. Both bands were Sanger sequenced. (C) Given the occurrence of this complex SV in two clones, and based on our previous estimation that mutations accumulate at the rate 5.1 SNVs per day per neuronal progenitor during neurogenesis (Bae et al. 2018), we expect this event occurs at approximately 14 wk postconception.
