Summary of clinical CNV findings using FirstStepDx PLUS.

Reported clinical findings are displayed next to chromosome Reported clinical findings are displayed next to chromosome ideograms. Deletions are shown on the left in red, and duplications are shown on the right in blue. Numbers in parentheses after chromosome band labels indicate the number of custom-designed probes in those bands. An excess of abnormalities is observed in the 4p region due to a research cohort; however this data is not reflected in the overall detection rates cited in the text.