Table 3.

Characteristics of the high-quality true-positive CNV dataset as defined by the SNP array

	Characteristics of the baseline truth CNVs defined by the SNP array
	Deletion	Duplication
Number of CNVs	180	299
Size	2.1 kb to 3.1 Mb (mean = 160 kb, median = 57 kb)	6 kb to 1.8 Mb (mean = 202 kb, median = 94 kb)
No. of SNP probes	10 to 2258 (mean = 67, median = 20)	10 to 774 (mean = 62, median = 29)
No. of exons overlapping the CNV	1 to 464 (mean = 15, median = 9)	1 to 359 (mean = 19, median = 11)
Small CNVs (< 4 exons)	36 (20%)	68 (23%)
Clinically reported CNVs	24 (13%)	17 (6%)