Table 1.

Validation Rate of Deletions as a Function of CNV Size

Size Range (kb)	Tested	# Validated	% Validated
1–10	31	25	80.7
10–20	22	20	90.9
20–30	13	11	84.6
Total	66	56	84.9

Example CNV (n = 66) were chosen from among all CNV to include CNV in different size bins and quality scores. Sixty-three of the chosen CNV were singleton. qPCR probes were designed within the predicted deleted region. A CNV was considered validated if one internal probe showed a >25% decrease in dosage as compared to a control sample without the CNV. Examples are shown in Figure 3.