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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
  1. 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