Fig. 4

Clinically reported CNVs detected by ClinSV compared to callability by clinical microarrays. WGS with ClinSV analysis was applied in a diagnostically accredited laboratory to 485 patients with a diverse range of phenotypes and previous molecular testing. Twenty-three clinically reportable CNVs were identified and subsequently reported to the referring clinician. Only a subset of these would have been identified by all, or some of the microarray platforms available throughout clinical laboratories in Australia