Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

Table 2 Significant loci in gene-based meta-analysis of the five neurodevelopmental/neuropsychiatric cohorts that contain case-enriched exonic CNVs in two or more cohorts

Marker name	Cytoband	CNV type	Number of cohorts observed	Meta P value	Direction of effect
ZNF280A	22q11.22*	Del	4	8.63E-08	-?++-
DOCK8	9p24.3	Dup	5	7.50E-07	+++++

The Number of cohorts is the number of cohorts in which CNVs were observed overlapping exons of the gene. The Direction of effect is reported in the order of Janssen SCZ and BD, CHOP SCZ, CHOP ASD, CHOP ADHD, and depression cohorts: a plus sign means CNVs are enriched in cases, a dash means CNVs are enriched in controls, a question mark means no CNV is observed overlapping the exons of this gene. Del deletion, Dup duplication.
* Known neuropsychiatric-disorder-associated regions

ISSN: 1756-994X