Skip to main content

Table 1 Comparison of the types of CNV breakpoints identified in Drosophila and humans.

From: Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing

Type of breakpoint Drosophila Human (Conrad et al.)a Human (Kidd et al.)b Molecular mechanism(s)
  n % n % n %  
Blunt 223 35 58 19 82 11 NHEJ
Microhomology 262 41 151 50 289 39 MMEJ, replication-associated repair
Blunt and large stretches of sequence identity (³20 bp) 2 0.3 3 1 219 29 SSA, NAHR, replication-associated repair
Inserted/deleted bases 143 22 81 27 153 21 NHEJ, replication-associated repair
Inserted/deleted bases and microhomology 14 2 9 3 3c 0.4 MMEJ, replication-associated repair
Total 644   302   743   
  1. The dataset of Conrad et al. refers only to deletions while the dataset of Kidd et al. includes both deletions and insertions. Excluded from both datasets of human CNVs were those variants classified as VNTRs (variable number of tandem repeats) and as transposable elements insertions. Further excluded from the dataset of Conrad et al. were 13 deletions that were also associated with inversions. Because Conrad et al. required only 1 bp of identical sequence to call a breakpoint as being associated with microhomology, we re-classified the entire dataset so that only deletions associated with at least 2 bp of identical sequence at the breakpoint were classified as being associated with microhomology.