Table 2.
CNCs Detected in APH-Treated Human Fibroblast Clones
| Clone | Location | Del/Dup | Span | Size (kb) | Number of Genes | Genes | Overlapping CNVs and CNCsa |
|---|---|---|---|---|---|---|---|
| A1A1 | 13q31.3 | Del | 93,393,314–93,545,246 | 151.9 | 1 | GPC6 | D |
| A1B1 | 7q11.22 | Del | 69,406,264–69,512,502 | 106.2 | 1 | AUTS2 | D |
| A1B1 | 10q21.1 | Del | 53,518,890–53,637,716 | 118.8 | 1 | PRKG1 | DGV |
| A1B1 | 17p13.1 | Del | 9,762,528–10,018,823 | 256.3 | 1 | GAS7 | DGV |
| A1E5 | 2q21 | Dup | 132,102,000–132,750,000 | 648.0 | 1 | MGC50273 | DGV, D, R |
| A1E5 | 15q11.1 | Dup | 18,258,000–19,386,000 | 1128.0 | 1 | POTE15 | DGV, D, R |
| A1E5 | 15q22.2 | Dup | 57,762,582–58,700,040 | 924.9 | 5 | BNIP2, ANXA2, others | DGV, D |
| A2A1 | 10q11.23-q21.1 | Del | 52,918,772–54,125,252 | 1206.5 | 3 | PRKG1, CSTF2T, DKK1 | DGV |
| A2B2 | 16q23.3 | Del | 82,012,578–82,256,444 | 243.9 | 1 | CDH13 | DGV, D |
| A3A2 | 3q13.31 | Del | 117,988,930–118,751,077 | 762.1 | 0 | - | DGV, D |
| A3A2 | 7q11.21 | Del | 61,379,057–61,440,507 | 61.5 | 0 | - | - |
| A3A2 | 9q34.11 | Dup | 130,303,992–130,698,757 | 394.8 | 10 | GLE1, SET, others | DGV |
| A3A2 | 10q25.2 | Dup | 111,819,613–114,254,912 | 2435.3 | 13 | ADD3, SMC3, others | DGV |
| A3A2 | 11p15.4 | Del | 6,476,848–6,562,692 | 85.8 | 1 | DNHD1 | D |
| A3A2 | 15q23 | Del | 69,469,613–69,494,713 | 25.1 | 1 | THSD4 | DGV |
| A3A2 | 18p11.23 | Del | 7,635,347–7,859,715 | 224.4 | 1 | PTPRM | DGV, D |
| A4A1 | 2q23.1 | Del | 148,836,637–148,895,094 | 58.5 | 0 | - | DGV, D |
| A4A1 | 3q26.3 | Del | 175,261,023–176,266,418 | 1005.4 | 2 | NLGN1, NAALADL | DGV |
| A4A1 | 5q21.3 | Dup | 107,139,095–107,360,201 | 221.1 | 1 | FBXL17 | DGV, D |
| A4A1 | 7q32.3 | Del | 130,223,711–130,389,769 | 166.1 | 0 | - | DGV, D, R |
| A4A1 | 15q22.2 | Del | 58,443,176–58,758,812 | 308.0 | 3 | ANXA2, NARG2, RORA | DGV |
| A4A1 | 18p11.2 | Dup | 7,972,838–8,146,688 | 143.0 | 1 | PTPRM | DGV, D |
| A5E1 | 1q44 | Dup | 244,302,000–247,181,852 | 2879.9 | 9 | SMYD3, NLRP3, others | DGV, D, R |
| A5E1 | 3q13.31 | Del | 117,512,606–118,793,995 | 1350.2 | 1 | LSAMP | DGV, D, R |
| A5E1 | 7q21.11-q31.3 | Dup | 78,193,775–110,468,830 | 32,275.1 | 198 | MCM7, VGF, others | DGV, D, R |
| A5E1 | 12p13.33 | Del | 18,892–1,350,007 | 1331.1 | 11 | HSN2, RAD52, others | DGV, D, R |
| A5E1 | 13q31.3 | Del | 93,268,807–93,537,593 | 168.7 | 1 | GPC6 | D |
| A5E1 | 17q24.1 | Del | 60,106,480–60,543,998 | 437.5 | 2 | FLJ34306, GNA13 | DGV, D |
| A5E1 | 20p12.1 | Del | 14,356,420–14,637,615 | 281.2 | 0 | - | D |
| A5E1 | Xq21.33 | Del | 96,331,475–96,693,752 | 362.3 | 1 | DIAPH2 | DGV |
| A5E1 | Xq21.33 | Dup | 96,700,002–97,012,625 | 312.6 | 1 | DIAPH2 | DGV, R |
a
CNVs and CNCs found in the database of genomic variants (DGV), DECIPHER (D), and RedonCNV2 in Ensembl (R).