Table 2.

De novo CNVs containing AVSD-associated genes

Candidate gene	Fetus ID	AVSD type	Associated cardiac defects	Cytoband	Start-end	Length	Type
NOTCH2	4	Partial	TA, PA	1p12p11.2	120524783-120904419	379.64 Kb	Dup, het, intragenic
	17	Complete	TGA, PS	1p12p11.2	120563920-120936695	372.78 Kb	Dup, het, intragenic
	45	Intermediate	DORV	1p12p11.2	120597708-120904419	306.71 Kb	Dup, het, intragenic
COL11A1	16	Complete	None	1p21.1	103361276-103582736	221.46 Kb	Dup, het, intragenic
	30	Partial	None	1p21.1	103319157-103743271	424.12 Kb	Del, het, whole gene
	32	Partial	None	1p21.1	103403979-103856289	452.31 Kb	Del, het, intragenic
NIPBL	1	Partial	IAA	5p13.2	36891413-37044984	153.57 Kb	Del, het, intragenic
	8	Intermediate	None	5p13.2	36891312-37054895	163.58 Kb	Del, het, intragenic
EHMT1	12	Complete	TGA, RAA	9q34.3	140203637-141023198	819.56 Kb	Dup, het, whole gene
	15	Intermediate	None	9q34.3	140481413-140707091	225.68 Kb	Del, het, intragenic
NR2F2	9	Complete	TGA, DORV, PS, PA	15q26.2	96777378-96923621	146.24 Kb	Dup, het, whole gene
	21	Complete	None	15q26.2	96786595-97311581	524.99 Kb	Dup, het, whole gene
COL6A1/2	2	Partial	TGA, PA	21q22.3	47389758-47576705	186.95 Kb	Dup, het, whole gene
	49	Partial	None	21q22.3	47378452-47612768	234.32 Kb	Del, het, whole genes
TBX1	38	Complete	TGA, DORV, PS	22q11.21	18939748-21721712	2.78 Mb	Del, het, whole gene
SHANK3	5	Complete	CAT	22q13.31q13.33	46933489-51219152	4.29 Mb	Del, het, whole gene
SMC1A	29	Partial	AS	Xp11.22	53363770-53490937	127.00 Kb	Dup, het, whole gene

Abbreviations: CNV, copy number variation; AVSD, atrioventricular septal defect; TA, tricuspid atresia; PA, pulmonary valve atresia; TGA, transposition of the great arteries; PS, pulmonary stenosis; DORV, double outlet right ventricle; IAA, interruption of aortic arch; RAA, right aortic arch; CAT, common arterial trunk; AS, aortic stenosis; Dup, duplication; Del, deletion; het, heterozygous.