Fig. 2

Examples of ASD-relevant CNVs. A Pedigree, IGV visualization, and UCSC genomic context of a 2.33 kb homozygous deletion comprising ~ 330 bp of exon 8 of ELOVL2 (see colored region of the UCSC panel, http://genome.ucsc.edu). B ddPCR results showing a copy number of zero in the proband (indicated by red star), equivalent to no reads detected from the inside primer. C Pedigree, IGV visualization, and UCSC genomic context of 7.7 kb de novo deletion from a simplex family comprising exon 7 to 10 of CSNK1A1 gene (see colored region of the UCSC panel, http://genome.ucsc.edu). D ddPCR results showing copy number calculation equals to one in proband, heterozygous status, (indicated by red star) equivalent to less reads detected from inside primer in the proband sample. OP1 outside primer 1, OP2 outside primer 2, IP inside primer