Table 3.

Copy number variations in CHD patients.

Platform	Patients	Genetic Alteration	Impact	Reference
Affymetrix Genome-Wide Human SNP Array 6.0	433 TOF	dup 1q21.1 (GJA5) del 1q32.2 (PLXNA2)	potential TOF candidate gene potential TOF candidate gene	[48]
Illumina 660W-Quad	948 TOF	dup 1q21.1 including rare 100-200 bp duplications (GJA5)	potential TOF candidate gene	[57]
Affymetrix Genome-Wide Human SNP Array 6.0	59 multiplex families with LS-CHD	25 candidate regions (e.g. CTHRC1, MFAP4, PLA2G12A)	potential LS-CHD candidate genes	[59]
NimbleGen high resolution whole-genome array CGH	43 HLHS	multiple del/dup CNVs micro dels in 14q23	association with HLHS, no cardiac candidate genes	[65]

del: deletion, dup: duplication, LS CHD: left-sided CHD.