sample ID | Gender | age | Cytoband | Chromosome Region | Event | Interval(kb) | Count of Gene | Major candidate genesa | CHD phenotype | DECIPHER/ISCA/OMIM (no. of clinical features)a |
---|---|---|---|---|---|---|---|---|---|---|
NA012 | F | 1y8m | 6p12.1 | Chr6:55,823,840-55,949,133 | Gain | 125 | 1 | BMP5 | VSD | / |
NA027 | M | 1y3m | 2q35 | Chr2:216,757,058-216,797,948 | Gain | 41 | 1 | XRCC5 | VSD | / |
NA067 | M | 7 m | 4q12 | Chr4:57,627,423-57,940,932 | Gain | 314 | 2 | IGFBP7, LOC255130 | VSD | / |
NA068 | F | 5y5 m | 16q22.1 | chr16:67,868,480-68,086,257 | Loss | 218 | 8 | COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A | TGA | VSD (20) |
NA079 | F | 3y1m | 10q24.31-q24.32 | Chr10:102,953,588-103,040,185 | Gain | 87 | 2 | LBX1 | VSD | VSD (10) |
NA008 | F | 2y8m | 3q12.1- q12.2 | Chr3:101,403,767-101,519,268 | Gain | 116 | 1 | TBC1D23 | VSD | / |
NA082 | F | 3y1m | 3p22.2 | Chr3:37377757-37577933 | Gain | 201 | 3 | GOLGA4, C3ORF35, ITGA9 | ASD | / |
3q26.33-29 | Chr3:180469228-198475603 | Gain | 18006 | 234 | SOX2, MAP3K13, BCL6, TP63, FGF12 | ASD | / | |||
4q34.3-q35.2 | Chr4:181,026,511-190,784,769 | Loss | 9694 | 76 | CASP3, ING2, PDLIM3, SLC25A4, F11 | ASD | VSD (5) | |||
NA084 | F | 1y2m | 2q36.1 | Chr2:222,835,872-223,511,548 | Gain | 676 | 6 | PAX3 | VSD | / |
NA252 | M | 4 m | Xq13.3 | ChrX:73900661-74462483 | Gain | 562 | 2 | KIAA2022,ABCB7 | VSD | / |
Xq21.1 | ChrX:77,425,233-78,428,001 | Loss | 1003 | 11 | CYSLTR1, GPR174, LPAR4, P2RY10 | VSD | / | |||
NA380 | F | 4y7m | 16p13.11 | Chr16:15,406,764-16,170,797 | Gain | 764 | 9 | MYH11, NDE1 | VSD | ASD (15), ASD (3) |
NA423 | M | 5 m | 16q24.1 | Chr16:16,574,972-28,505,961 | Loss | 100 | 2 | ATP2C2, WFDC1 | VSD | / |
NB1264 | M | 27d | 4p16.1 | Chr4:8,270,586-8,498,212 | Loss | 228 | 4 | ACOX3, C4orf23, HTRA3, SH3TC1 | VSD,ASD | / |
NB245 | M | 1 m | 16p13.11 - p11.2 | Chr16:16,574,972-28,505,961 | Gain | 11931 | 135 | CACNG3, CHP2, PLK1, PRKCB, XYLT1 | VSD,ASD | ASD (15) |
NB887 | F | 4 m | Xq22.1 | ChrX:100,039,582-100,068,017 | Gain | 28 | 1 | XKRX | VSD,ASD,PDA,PH | / |
NB910 | M | 11d | 13q13.3 | Chr13:35,777,130-35,835,221 | Gain | 58 | 1 | NBEA | VSD,PDA,PFO | / |
Xq27.2 | ChrX:140,727,218-141,583,235 | Gain | 856 | 3 | MAGEC1, MAGEC2, MAGEC3 | VSD,PDA,PFO | / | |||
NC15 | M | 5y | 20p12.1 | Chr20:16,574,972-28,505,961 | Gain | 120 | 1 | KIF16B | VSD | ASD,VSD (15) |
NC27 | F | 4y | 15q13.1 | Chr15:25,833,244-25,871,572 | Loss | 38 | 1 | OCA2 | VSD | / |
NC28 | M | 3y | 15q26.2 | Chr15:92,616,792-92,673,355 | Loss | 57 | 1 | MCTP2 | VSD | AVSD, CHD (4), ASD |
NS176 | M | 7y1m | 7p14.2 | Chr7:36657642-36756092 | Gain | 118 | 1 | AOAH | VSD | ASD,VSD |
7y1m | 14q32.12 | Chr14:91069401-91230897 | Gain | 160 | 2 | C14orf184, CATSPERB | VSD | ASD | ||
NS480 | M | 4y | 1q31.2 | Chr1:190,543,305-190,707,353 | Gain | 164 | 1 | RGS21 | VSD | ASD (35) |
NS494 | M | 2 m | 2q14.2 | Chr2:119,275,149-119,375,870 | Gain | 101 | 1 | EN1 | VSD,PFO,PH | ASD (5) |
NS548 | M | 3y | 7q11.22 | Chr7:70,953,860-71,032,938 | Loss | 79 | 1 | CALN1 | VSD | VSD (15) |
NS584 | F | 8 m | 9q21.32 | Chr9:84,859,691-85,387,778 | Loss | 528 | 2 | FRMD3, RASEF | ASD,PS | / |
NS659 | F | 12y5 m | 7q31.32 | Chr7:121,449,591-122,397,323 | Gain | 948 | 7 | AASS, CADPS2, FEZF1, PTPRZ1 | VSD | / |
NS667 | F | 1y9m | 21q22.3 | Chr21:41639464-41733339 | Gain | 94 | 3 | FAM3B,MX2, MX1 | VSD | ASD (15) |
NS8343 | M | 5 m | Xp22.2 | ChrX:13,472,898-13,530,787 | Loss | 58 | 1 | EGFL6 | VSD,PDA,ASD,PFO | / |