Table 3.

Confirmation of Potentially Clinically Relevant CNVs Detected by Both CNVnator and ERDS in the Genomes of Participants in the Autism Speaks MSSNG WGS Project

	≥3 Mb	ASD-Risk Genes	Genomic Disorders
# deletions identified	10	143	17
# deletions successfully confirmed/total tested	10/10	27/27	17/17
# duplications identified	16	170	34
# duplications successfully confirmed/total tested	16/16	16/16	34/34

CNVs that were both ≥3 Mb and represented a genomic disorder were assigned to the latter category. Most CNVs were tested as part of another study,²⁶ and the remainder were tested specifically for this study.