Table 1. CNV-findings associated with ischemic stroke.

CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; EDS: Ehlers Danlos syndrome; SAO: small arterial occlusive disease; LVD: large vessel disease; CeAD: cervical artery dissection; CCM: cerebral cavernous malformations; VNTR: variable number of tandem repeats.

Phenotype	CNV	affected/disrupted genes	Ref
CNV-findings in stroke due to a Mendelian disorder
CADASIL	100 bp deletion	NOTCH3	[10]
vascular EDS	2q32 deletion	COL3A1, COL5A2	[11]
CNV associated with subtypes of ischemic stroke
CeAD		enrichment of various CNVs affecting arterial development	[12]
CeAD	16p13.1 duplication	MYH11 /ABCC6 locus	[12]
Moya-moya	6pter duplications		[13,14]
CCM	exonic CNVs	CCM1; CCM2; CCM3	[15]
SAO	13q34 duplication	COL4A1/COL4A2 locus	[16,17]
SAO	low (<4) copy number	DEFB4	[18]
LVD	low (<4) copy number	DEFB4	[18]
CNV associated with complex developmental retardation phenotypes and pediatric stroke
	1q24 /10q26 deletions	SERPINC1	[19]
CNV associated with stroke risk factors
Atrial fibrillation	intronic duplication	KCNIP1	[20]
Obesity	CNV burden		[21]
Obesity	16p11.2/22q11.2 deletion		[22]
Obesity	low copy number	AMY1	[23]
Hyperlipidemia	VNTR	LDLR, LPA	[24]