Fig. 1.

Detection of copy number variants.

Coverage histograms (scale 0–250 read depth) of exons 6–15 of ATP7A (NM_000052) for two samples (Subjects B,C) displaying copy number variants identified by the CNV caller as intervals beneath the coverage track. Duplications are shown in green and deletions in red. Subject B shows a duplication of exons 7–12. Subject C shows a homozygous deletion after exon 6 (the deletion continues for the remaining exons). The inset below shows the above samples and sample 15, the normal control. The control 1,084,460-1shows reduced base coverage at each position on the left three exons than in sample 1,084,460–1 as expected.