. Author manuscript; available in PMC: 2009 Apr 17.

Published in final edited form as: Nature. 2006 Nov 23;444(7118):444–454. doi: 10.1038/nature05329

Table 1. Functional sequences within copy number variable regions (CNVRs).

Statistical significance of the enrichment or paucity of functional sequences within CNVRs was assessed by randomly permuting the genomic location of autosomal CNVRs (Supplementary Methods). Significant observations are shown in bold. Note that both conserved non-coding elements (CNCs) ⁷⁷ and CNVRs are biased away from genes so an enrichment of CNCs in CNVRs is not unexpected.

Functional sequence	WGTP CNVRs	500K EA CNVRs	Merged CNVRs
RefSeq genes	2,561	1,140 ^**	2,909 ^**
OMIM genes	251	112 ^**	285
Ultra-Conserved Elements	48 ^**	16 ^**	50 ^**
Conserved Non-Coding elements	111,295 ^*	81,517 ^*	130,352 ^*
non-coding RNAs	57	29 ^**	67

significant (p < 0.05) enrichment

^**

significant (p < 0.05) paucity