Figure 1

Genome browser views of ASD specific CNVs at A) 2p16.3 B) 11p12 C) 8p12 and D) 4q13.1. In each case, representative isoforms of known RefSeq genes, mRNA and/or Expressed Sequence Tags are shown. Deletions and duplications are represented by red and blue bars, respectively. In Figure 1A) a dashed line indicates a diploid region located between two adjacent deletions in the same individual. Additional browser views from other loci shown in Table 1 are included in Additional file 1 A-J. In all cases where parental DNA was available, the CNVs shown were found to be inherited. Additional case SK0167-003 found in Marshall et al.[19].