The preprint for our methods manuscript detailing CNView, a lightweight R tool for visualizing and annotating CNVs from population-scale WGS data, is now live on bioRxiv:
We've used early alpha builds of CNView previously to confirm predicted simple CNVs and complex structural variation in a couple of papers, including Brand & Pillalamarri et al. (2014) and Brand & Collins et al. (2015). Being a predominantly visual learner, I originally built CNView from the self-serving need to provide a normalized sanity check for all different sizes and classes of unbalanced rearrangements. We've found it to be a useful method to save cost on molecular validation and perform internal methods development/tuning. We hope you will too!
We'll update the bioRxiv entry if the manuscript ends up in press after peer review, but in the meantime any critiques, comments, or questions are welcomed. You can contact me at firstname.lastname@example.org.
Finally, below are some examples of CNView output. These were all generated directly from the command line with no post-hoc modification.