RefSeq genes (Figure 3A) on chromosome 5q (chr5: 127,500,000-179,295,570). Three other de novo variants were detected: a 316 kb duplication at 6p25.3 (chr6: 744,618-1,060,897; 1 RefSeq gene), a 1.2 Mb deletion at 20p13 (chr20: 2,758,098-3,942,609; 27 RefSeq genes) (Figure 3B), and a 2.5 Mb duplication at 22q11.21 (chr22:17,269,490-19,792,353; 56 RefSeq genes) (Figure 3C). Though the number of events evaluated here is small, the distribution of CNV size and gene content in TS cases as well as controls in this study is similar to the pattern we observed in a recent study of ASD (Figure 4), in which large highly genic de novo events were essentially restricted to affected individuals (38).
