Fig. 3: UCSC genome browser view of 16p11.2 CNVs identified in individuals from UKB.
From: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
The Segmental Dups and GENCODE Genes (protein-coding genes, version 38) tracks are shown. All deletions (red blocks) encompass the whole single-copy region (from SPN to CORO1A) that is flanked by segmental duplication clusters where there is uncertainty about the exact position of the breakpoints. As expected, breakpoints of duplications (blue blocks) are more variable, reflecting the greater difficulty in detecting duplications than deletions using SNP-array data61. However, because of the NAHR mechanism that generates CNVs at this locus, we would expect that all deletion and duplication breakpoints fall within the flanking segmental duplication clusters (BP4 and BP5 regions).
