Fig. 4.

CNV-Seq analysis of patient genomic DNA. Twenty-four chromosome plots are shown as log₂ mean CNV (Y-axis) versus 20kb sequencing bins (X-axis). Chr 23 = Chr X; Chr 24 = Chr Y. The blue line along the length of each chromosome tracks the mean CNV. The upper dashed line represents a 100 % chromosome gain [log₂(1.5)] and the lower dashed line represents a 100 % chromosome loss [log₂(0.5)]. Red lines indicate regions of repetitive sequences and the black box marks the centromere. Dashed red boxes indicate significant CNVs identified on chromosomes 5 and 6