Fig. 3

CNV analysis by XHMM and Nord’s method in family 2. a A 236 kb deletion at 6q23.3 involving TNFAIP3 in patients 3 and 4 detected by XHMM. The x-axis shows the genomic position, and the y-axis indicates the Z score. Red arrows represent calls for copy number losses. b A deletion involving TNFAIP3 and PERP in patients 3 and 4 detected by Nord’s method. The x-axis shows arrays of targeted genes of different colors with their proportional physical length and the y-axis shows log₂ ratios for each targeted base in the genes tested. Red arrows represent calls for copy number losses. c Schematic representation and comparison of the deletions containing TNFAIP3. The thick red bar represents the 236 kb deletion in family 2, and the thick blue bar represents the 13 Mb deletion at 6q23.2-q24.3 reported by Franoco-Jarava et al. (2018). The genomic region diagrams were captured from the browser using DECIPHER (http://decipher.sanger.ac.uk). CNV copy number variation, XHMM eXome Hidden Markov Model