Table 2. Comparison of DS+AVSD significantly associated CNVs from Sailani and co-workers to our current study.

		Sailani and Co-workers’ CGH Results				Our CGH Results
		Cases (n = 53)		Controls (n = 55)		Cases (n = 198)		Controls (n = 222)
		DS+AVSD		DS+NH		DS+AVSD		DS+NH
	Coordinates (hg19)	Deletion Frequency	Duplication Frequency	Deletion Frequency	Duplication Frequency	Deletion Frequency	Duplication Frequency	Deletion Frequency	Duplication Frequency
CNV1	chr21:43,193,374–43,198,244	0.18	0.07	0	0	0	0	0	0
CNV2	chr21:43,411,411–43,413,231	0.24	0.14	0	0.11	N/A	N/A	N/A	N/A

We did not replicate the previously reported significant association of common deletions and duplications at CNV1 in the study by Sailani et al. (2013). Our CGH array did not have at least six probes inside CNV2 and thus was undetectable by our methodology. CGH, comparative genomic hybridization; DS+AVSD, individuals with Down syndrome and complete atrioventricular septal defect; DS+NH, individuals with Down syndrome without a congenital heart defect (i.e., normal heart); CNV, copy number variant; chr21, chromosome 21.