For the CNV at 5q13.2, over 97% of these CNVs (called by all three algorithms) were confirmed as true CNVs using qPCR. Only 85% were validated when the CNV was called by 2 of 3 algorithms and 38% when only 1 of 3 algorithms called it. Redoing analyses with successfully validated CNVs yielded identical results. However, for 6q14.1, while all deletions were confirmed, none of the duplications were reproduced via qPCR. This suggests that the result for 6q14.1 should be viewed with caution.
