Fig. 2

Structural variant analysis of loci 1:54828792-55862308 showing gene duplication in PCSK9 gene. Next-generation sequencing (NGS)-based detection of a PCSK9 copy number variation (CNV) in a likely FH individual. The duplication is marked by an increase in average read depth within the interval of (Chr1:54,828,792-55,862,308, 1.03 Mb) and is supported by paired-end reads (red boxes connected by thin line) that map to either side of the affected allele, confirming the duplication breakpoints. Region affected by duplication covers all 12 exons of the PCSK9 gene, plus the rs11206510 probe 8,655 bases upstream of PCSK9.