Figure 2

Summary of 22q11.2 copy number variations (CNVs) identified by CNVplex®. A schematic representation of the physical map of 22q11.2 showing the locations of low-copy repeats of chromosome 22 (LCR22s) (yellow boxes) and sequence position (UCSC version hg19, based on NCBI build 37). Genes that had probes in CNVplex® are shown in red boxes, and those that had probes in multiplex ligation-dependent probe amplification (MLPA) are shown in blue boxes. Solid red and blue bars below the map depict the deletions and duplication identified in this study, respectively.