Supplementary Figure 3: Homozygosity mapping and copy-number analysis.
From: Biallelic mutations in human DCC cause developmental split-brain syndrome
Analysis identified a block of homozygosity on chromosome 18, bounded by SNP markers rs10502546 and rs9950483 and included 139 UCSC genes (homozygous SNPs are shown in red or blue, heterozygous SNPs are shown in green, and SNPs for which no genotype could be assigned are shown in white). Copy number analysis (using Variant Explorer) identified a rare homozygous deletion (orange box) on chromosome 18q21.2 near exon 1 of DCC, and a common non-genic homozygous deletion on chromosome 18q12.3.
