Table 4.

Summary of functional copy number and DNA methylation profile for participants with atypical 7q11.23 Copy Number Variants (CNVs).

Participant	Gene					DNA methylation profileb
	BAZ1B	BCL7B	BUD23	GTF2IRD1a	GTF2I
Atyp Del1	2 copies	2 copies	2 copies	1 copy	1 copy	WBS
Atyp Del2	2 copies	2 copies	2 copies	1 copy	1 copy	WBS
Atyp Del3	1 copy	1 copy	1 copy	2 copies	2 copies	TD
Atyp Dup1	2 copies	2 copies	2 copies	2 copies	2 copies	TD
Atyp Dup2	3 copies	3 copies	3 copies	3 copies	3 copies	Dup7
Atyp Dup3	3 copies	3 copies	3 copies	3 copies	2 copies	Dup7

^aGTF2IRD1 expression could not be assayed due to very low levels.

^bDNA methylation profile refers to the group profile that each participant most closely clustered with after multi-dimensional scaling (Fig. 2b).