Table 3 Pathogenic and likely pathogenic CNVs identified in the CHD patients by CMA.

From: Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing

Sample ID	Sex	Age	Chr	Start	End	Cytoband	Size (kb)	CNV type	Parent of origin	Genetic syndrome/involved genes
J003	M	4 m	chr7	72,718,277	74,142,190	7q11.23	1424	deletion	de novo	Williams-Beuren syndrome
**J153	M	3m17d	chr7	43,360	1,813,034	7p22.3	1800	deletion	de novo	FAM20C + 28 genes
**J153	M	3m17d	chr7	135,539,873	159,119,707	7q33q36.3	23,500	duplication	de novo	SHH + 411 genes
J217	M	1m12d	chr8	118,613,782	132,810,827	8q24.11q24.22	14,200	deletion	de novo	Langer-Giedion syndrome
J009	M	6m15d	chr9	119,462,030	119,462,030	9q33.1	71,112	deletion	maternal	ASTN2 and TRIM32
J180	F	6m1d	chr11	83,032,882	134,938,470	11q14.1q25	51,900	duplication	de novo	11q partial trisomy
*J144	M	1m27d	chr13	47,645,885	75,352,286	13q14.2q22.1	27,706	deletion	de novo	Partial monosomy 13q
J109	M	2y	chr13	111,822,734	115,079,011	13q34	3256	deletion	de novo	13q deletion syndrome
J109	M	2y	chr19	260,911	2,489,834	19p13.3	1600	duplication	paternal	19p duplication syndrome
J199	F	19d	chr15	22,754,322	23,300,172	15q11.2	546	deletion	paternal	15q11.2 microdeletion syndrome
J106	M	1y	chr15	22,770,421	23,282,799	15q11.2	512	deletion	paternal	15q11.2 microdeletion syndrome
J177	M	6m12d	chr16	14,771,789	16,303,388	16p13.12p13.11	1530	deletion	de novo	16p13.11 microdeletion syndrome
J150	F	3y4m	chr16	46,550,370	59,623,084	16q11.2q21	13,100	duplication	de novo	16q partial trisomy
J179	M	1y1m	chr17	16,758,204	20,291,019	17p11.2	3530	deletion	de novo	Smith-Magenis syndrome
J128	F	4m16d	chr17	58,117,428	60,294,440	17q23.1q23.2	2177	duplication	paternal	17q duplication syndrome
J016	M	1y5m	chr18	136,226	4,946,877	18p11.32p11.31	4810	deletion	maternal	18p deletion syndrome
J194	F	1m9d	chr22	18,895,703	21,460,220	22q11.21	2560	deletion	de novo	22q11.2 deletion syndrome
J202	M	8m17d	chr22	18,889,490	21,462,353	22q11.21	2570	deletion	maternal	22q11.2 deletion syndrome
J173	F	1y5m	chr22	18,877,787	21,462,353	22q11.21	2580	deletion	de novo	22q11.2 deletion syndrome
J131	M	11m7d	chr22	18,916,842	21,798,907	22q11.21	2882	deletion	de novo	22q11.2 deletion syndrome
J201	F	1m1d	chr22	18,889,490	21,940,189	22q11.21	3050	deletion	de novo	22q11.2 deletion syndrome

*this subject has a mosaic deletion (1–2) of chr13:47,645,885 − 75,352,286.
**this subject has a de novo deletion of chr7:43,360-1,813,034, immediately adjacent to a de novo duplication of chr7:1,813,405-3,642,604 (VUS not shown) and then another de novo duplication of chr7:135,539,873 − 159,119,707.

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Table 3 Pathogenic and likely pathogenic CNVs identified in the CHD patients by CMA.

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