Table 2.

Analysis of frequencies of UCEs

	Size (Mb)	% of genome	No. UCEs	Enrichment ratio a	P-value b	No. Sno/miRNA	Enrichment ratio a
Genome	3107		481			1120
Polymorphic CNVs	23.74	0.76	0	-	0.06	7	0.82
Pathogenic CNVs	82.97	2.67	29	2.26	0.000007	42	1.41
Deletions	47.45	1.53	26	3.55	0.000001	18	1.05
Duplications	35.52	1.14	3	0.54	0.28	24	1.87

Analysis of frequencies of ultraconserved elements (UCEs) among polymorphic and pathogenic CNVs detected in our series of patients. Note that the lack of UCEs among polymorphic CNVs is in the limit of significance, while the excess of UCEs among pathogenic CNV is largely due to those present in deletions. Comparatively, similar analyses of frequencies for microRNAs/snoRNAs do not show significant differences, thus confirming the representativeness of the examined regions.

(a) Enrichment ratio represents the ratio between observed and expected elements. It is calculated as (item count/size of region)/(total items/size of genome).

(b) Chi-square test for goodness of fit.