Figure 1.

(a) Location of 22q11.2 duplications in discovery cases and replication cases and controls that cover the 1.5 Mb nested region. (b) Log₂ RPKM mRNA abundance for genes in the 22q11 deletion and duplication carriers normalized to diploid subjects. Each gene (their positions depicted in alternating white or gray bars) has three measurements: deletion carriers, diploid subjects and duplication carriers. Genes are shown in map order, though their relative position is not drawn to scale. CNV, copy number variant.