Table 3. Details of platform comparison.
| Arrays | No. Samples | No. Stringent CNVs | Average CNVs/Sample | Average CNV Size, kb | No. Overlapping calls | % Overlap/ Validationa | % CNVs With Insufficient Probes in Other Array | Novel CNVs/Sample | |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Agilent 1M | 82 | 2747 | 33.5 ± 6.11 | 107 | 183 | 6 | 67.5 | 31.27 ± 5.38 |
| Affy 500K | 82 | 289 | 3.52 ± 2.28 | 520 | 189 | 65 | 6 | 2.17 ± 1.22 | |
| 2 | Agilent 1M | 262 | 8971 | 34.24 ± 6.45 | 97 | 2725 | 30 | 38 | 23.84 ± 5.30 |
| Ilmn 1M single | 262 | 4779 | 18.24 ± 4.69 | 110 | 2729 | 57 | 59.12 | 7.82 ± 3.11 | |
| 3 | Agilent 1M | 11 | 413 | 37.55 ± 6.76 | 83 | 99 | 24 | 39.70 | 28.55 ± 5.13 |
| Ilmn 1M duo | 11 | 169 | 14.36 ± 4.32 | 84 | 108 | 64 | 67.21 | 5.54 ± 1.81 | |
| 4 | Agilent 1M | 234 | 8270 | 35.49 ± 6.23 | 98 | 4439 | 53 | 5.6 | 16.44 ± 4.27 |
| Affy 6.0 | 234 | 15,315 | 65.45 ± 8.87 | 80 | 4701 | 34 | 77.46 | 45.35 ± 7.39 | |
| 5 | Agilent 1M | 26 | 945 | 36.35 ± 6.27 | 108 | 328 | 35 | 33 | 23.73 ± 4.63 |
| Ilmn Omni 2.5M | 26 | 1230 | 47.31 ± 9.77 | 61 | 380 | 31 | 81.4 | 32.69 ± 8.57 |
ASD, autism spectrum disorder; CNV, copy number variations; PDx, control cohort DNA samples.
% overlap/validation- refers to the percentage of CNVs that were also detected by the other array. For example, for the first platform comparison between Agilent 1M and Affy500K arrays, only 6% of the CNVs detected by Agilent 1M were also detected by Affy500K while 65% of the CNVs detected by Affy500K were also detected or validated by Agilent 1M array.