Figure 3. Montage illustrating representative genotype and copy number data across the IBD interval and FREM1. A: Genotype status (upper panels) and copy number data (lower panels) are provided for the first 55 SNPs in the IBD region (Chr9: 14,377,817–14,484,388). The BAF plots demonstrate homozygosity in the probands (BAF=1 or 0) and heterozygosity in the unaffected parents (BAF=0.5). The LRR plots also suggest no CNVs are present (LRR ~0). B: The lack of CNVs in FREM1 (14,727,151–14,900,234) is evident from LRR plots. CnvPartition did not detect any CNVs in this region as all 96 SNPs in this region were assigned a normal CNV value of 2.