Table 3 Summary of copy number variations detected in 105 patients with congenital heart disease

Patient	Gain/loss	Region	Length*	Start†	End†	Start	End	Genes in region‡
De novo
1920	Dup	7q22.1	0.48	98.17	98.65	RP11-112P23	RP11-694E14	TMEM130, TRRAP, SMURF1
2289	Dup	13q14.11	1.43	41.97	43.40	RP11-734H10	RP11-810J19	TNFSF11, C13orf30, EPSTI1, DNAJD2, ENOX1, CDC122, C13orf31C
1771	Del	17p11.2	3.98	16.47	20.45	RP11-92B11	RP11-185K08	49 RefSeq genes including RAI1
Familial
2332	Del	1q21.1 pat	1.92	144.41	146.33	RP11-666N05	RP11-115G11	CD160, PDZK1, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89, FLJ39739
1789	Dup	2p22.3 pat	0.70	32.51	33.21	RP11-107A08	RP11-258F20	BIRC6, TTC27, LTBP1
4770	Dup	3p22.2 mat	0.34	39.40	39.74	RP11-369L02	RP11-365B07	SLC25A38, RPSA, MOBP
1745	Dup	3q22.3 pat	0.68	139.64	140.32	RP11-155A14	RP11-261H04	FAM62C, CEP70, FAIM, PIK3CB, FOXL2, BPESC1
1644	Dup	5q23.2 mat	0.35	126.64	126.99	RP11-0786E07	RP11-697K08	MEGF10, PRRC1, CTXN3
2930	Dup	11q14.1 pat	1.03	79.88	80.91	RP11-738I24	RP11-64E23	Gene empty region
3110§	Dup	15q26.1 pat	0.51	88.33	88.84	RP11-693F05	RP11-154B12	ZNF710, IDH2, SEMA4B, CIB1, LOC390637, TTLL13,
								NGRN, ZNF774, IQGAP1
1610	Dup	22q11.2 mat	2.35	17.39	19.74	RP11-462N04	RP11-54C02	41 RefSeq genes including *TBX1*
Unknown inheritance
4875	Dup	4q32.3	1.76	167.52	169.28	RP11-217C07	RP11-505I12	SPOCK3, ANXA10
1688	Dup	10q24.33-q26.11	13.85	105.15	119.00	RP11-320K06	RP11-231K22	56 RefSeq genes
3488	Dup	11q25	0.53	132.23	132.76	RP11-178O06	RP11-747B03	OPCML
1952	Dup	13q14.11	0.74	41.00	41.74	RP11-8P15	RP11-596M22	KIAA0564, DGKH
3551	Del	20p12.1	0.97	14.96	15.93	RP11-430B05	RP11-22E15	MACROD2
1939§	Dup	22q11.2	1.44	20.11	21.55	CTD-2245I11	RP11-50L23	HIC2, UBE2L3, YDJC, CCDC116, SDF2L1, PPIL2, YPEL1, MAPK1, PPM1F, TOP3B, VPREB1, ZNF280B, ZNF280A, PRAME, GGTLC2
4876	Del	22q11.2	2.61	17.39	20.00	RP11-462N04	RP11-818K20	48RefSeq genes including *TBX1*

RefSeq, reference sequence numbers in NCBI reference database.
*Size of the aberration in Mb.
†Start/End: chromosomal location of the aberration in Mb according to HG18, March 2006.
‡Potential candidate genes for CHD are marked in bold; targeted mutations in GJA5, LTBP1and TBX1 result in cardiac defects in mice;30^–32
§Over 50% covered by copy number variations as listed in the Database of Genomic Variants.
Patient numbers correspond to table 2.