Table 1.
Data analysis: CNV, AOH detection by SNP microarray
| Event | Aberrant cell fraction % | Estimated copy number | Estimated copy number of tumor fraction | ISCN nomenclature | Length Mb | Gene count | CIVIC gene count | COSMIC census tier I count |
|---|---|---|---|---|---|---|---|---|
| CN loss | 44.3 | 1.49 | 1 | 5q15q21.3(92645401_102210820) × 1 ~ 2 | 12.87 | 52 | 0 | 0 |
| CN loss | 43.9 | 1.49 | 1 | 5q14.3(87333557_90841423) × 1 ~ 2 | 3.51 | 19 | 0 | 0 |
| CN loss | 43.4 | 1.51 | 1 | 5q21.3q33.1(106408771_151202965) × 1 ~ 2 | 44.79 | 452 | 5 | 5 |
| CN gain | 54.4 | 2.65 | 3 | 20p13p12.3(2014047_8404702) × 2 ~ 3 | 6.39 | 88 | 1 | 0 |
| AOH | 38.5 | 2/AOH | 2/AOH | 17p13.3p11.2(1_18289923)x2 mos hmz | 18.29 | 394 | 9 | 9 |
CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively