Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

Zhang, Xingyu; Wang, Bo; You, Guoling; Xiang, Ying; Fu, Qihua; Yu, Yongguo; Zhang, Xiaoqing

doi:10.1186/s12920-021-01090-y

BMC Medical Genomics

Table 2 CNVs in 262 CAVC patients

From: Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

ID	Sex	Cardiac phenotype	CNV	Start (bp)	End (bp)	size (Kb)	Marker count	Chr, region	Frequency (%) in our cohort^#	CNV Type	Frequency (%) in DGV*	Frequency (%) in DECIPHER*	DECIPHER/ISCA/OMIM	Major candidate genes
CAVC149	M	CAVC, DORV, TAPVC, SA	Dup	16,174,790	18,642,949	2468	104	Yq11.221–11.222	0.3817 (1/262)	N-causative	0.0545
CAVC084	M	CAVC, ASD, AVVR	Del	6,492,863	9,264,427	2772	163	Yp11.2	0.3817 (1/262)	N-causative	0.0138
CAVC142	M	CAVC, ASD, PFO	Del	42,673,287	42,903,979	231	122	17q21.2-17q21.31	0.3817 (1/262)	N-causative	N. A
CAVC274	F	CAVC, PFO	Dup	99,471,505	100,319,058	848	70	3q12.1-3q12.2	0.3817 (1/262)	P-causative		0.0130 (5/38367)	VSD	TBC1D23
CAVC145	F	CAVC, PDA, PH	Del	141,845,636	144,390,430	2545	396	8q24.3	0.3817 (1/262)	P-causative		0.0417 (16/38367)	VSD, CAVC, ASD, ToF	PUF60
CAVC102	F	CAVC, PDA, PFO	Del	78,588,699	84,286,313	5698	373	8q21.13-8q21.2	0.3817 (1/262)	P-causative		0.0678 (26/38367)	TOF, VSD	STMN2, ZBTB10
CAVC162	M	CAVC, DORV	Del	73,230,400	74,752,194	1522	256	7q11.23	0.3817 (1/262)	P-causative		0.336 (129/38367)	CAVC	ELN
CAVC207	F	CAVC, ASD, AVVR	Dup	18,721	38,816,830	38,798	4451	9p24.3-9p13.1	0.3817 (1/262)	P-causative		0.8106 (311/38367)	TOF, TGA, CoA	uncertain
CAVC084	M	CAVC, ASD, AVVR	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3	14.8855 (39/262)	P-causative		0.5578 (214/38367)	ASD, VSD, ToF, HLHS
CAVC142	M	CAVC, ASD, PFO	Dup	13,038,109	46,443,844	33,406	3433	21q11.2-21q22.3
CAVC003	F	CAVC, TOF	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC006	M	CAVC, TOF, ASD	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC035	M	CAVC, ASD, PDA	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC050	M	CAVC, ASD, VSD	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC056	F	CAVC, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC061	F	CAVC, ASD, PDA	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC083	F	CAVC, PDA, AVVR	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC085	F	CAVC, PFO, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC088	F	CAVC, ASD, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC115	F	CAVC, ASD, AVVR	Dup	13,038,109	46,687,133	33,649	3441	21q11.2-21q22.3
CAVC117	F	CAVC, ASD, PS	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC120	F	CAVC, PFO, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC137	F	CAVC, ASD, PDA	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC138	F	CAVC, PFO, AVVR	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC158	M	CAVC, PH, AVVR	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC164	M	CAVC, PFO, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC181	F	CAVC, ASD, PH	Dup	13,038,109	46,687,133	33,649	3409	21q11.2-21q22.3
CAVC182	F	CAVC, ASD, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC215	F	CAVC, ASD, AVVR	Dup	13,038,109	43,656,492	30,618	2869	21q11.2-21q22.3
CAVC225	M	CAVC, TOF, ASD	Dup	13,038,109	44,280,050	31,242	2942	21q11.2-21q22.3
CAVC226	F	CAVC, ASD, AVVR	Dup	13,038,109	42,995,775	29,958	2772	21q11.2-21q22.3
CAVC230	F	CAVC, PH, AVVR	Dup	13,038,109	43,025,182	29,987	2774	21q11.2-21q22.3
CAVC232	M	CAVC, ASD, AVVR	Dup	13,038,109	42,687,189	29,649	2753	21q11.2-21q22.3
CAVC237	F	CAVC, PH	Dup	13,038,109	43,055,843	30,018	2784	21q11.2-21q22.3
CAVC241	M	CAVC, ASD, AVVR	Dup	13,038,109	44,068,398	31,030	2955	21q11.2-21q22.3
CAVC248	F	CAVC, ASD, PH	Dup	13,038,109	46,687,133	33,649	3425	21q11.2-21q22.3
CAVC250	F	CAVC, TOF, PDA	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC251	F	CAVC, ASD	Dup	13,038,109	46,687,133	33,649	3434	21q11.2-21q22.3
CAVC252	M	CAVC, ASD, AVVR	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC253	M	CAVC, ASD, PH	Dup	13,038,109	44,282,471	31,244	2976	21q11.2-21q22.3
CAVC259	M	CAVC, ASD, PH	Dup	13,038,109	45,989,774	32,952	3232	21q11.2-21q22.3
CAVC260	F	CAVC, PDA, PS	Dup	13,038,109	43,638,875	30,601	2902	21q11.2-21q22.3
CAVC264	F	CAVC, ASD, PH	Dup	13,301,510	44,117,172	30,816	2948	21q11.2-21q22.3
CAVC268	M	CAVC, PDA, PFO	Dup	13,038,109	43,789,291	30,751	2895	21q11.2-21q22.3
CAVC271	F	CAVC, ASD, PH	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3
CAVC278	M	CAVC, PH	Dup	13,038,109	46,440,013	33,402	3431	21q11.2-21q22.3
CAVC274	F	CAVC, PFO	Dup	13,038,109	46,687,133	33,649	3449	21q11.2-21q22.3

Details of CNVs in 262 CAVC patients were presented, including 3 non-causative CNVs (N-causative) and 6 potentially-causative CNVs (P-causative). “Dup” means duplication; “Del” means deletion; “CN” means copy number; “N.A” means not available. # Frequencies in our cohort (Common, ≥ 1%; Rare, < 1%). * Frequencies referred to corresponding public dataset (DGV for non-causative CNVs, Decipher for potentially-causative CNVs). Potentially-causative CNV frequency in Decipher was calculated with specific CNV counts dividing by the number of open-access patient records

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ISSN: 1755-8794

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