The 16p13.11-p12.3 region. Chromosomal coordinates according to the Human Genome Build 36 are shown at top, followed by genes from the Reference Sequence database. The locus is marked by regions of single copy sequence interspersed with stretches of segmental duplications. The single copy regions, referred to in the article as I, II and III are shown as black bars. Copy number variants (CNVs) identified by Ullmann et al.12 and Hannes et al.13 are also indicated with black bars, gray bars reflect uncertainty of exact breakpoints. The genomic coverage of microarrays used in this study is also shown, and reflects the division of the locus into single copy regions and segmental duplications, as does the coverage of HapMap single nucleotide polymorphisms (SNPs) from the CEU trios and the track displaying segmental duplications. At the bottom, we have depicted the largest low copy repeats in the region (<50 kb) with high sequence homology (>98%), different colors denote different repeats and arrows show directionality. Finally, we show the most likely sites for NaHR causing four of the six CNVs found in the study.