Table 1. Summary of confirmed rearrangements in NCI-H2171 and NCI-H1770.
NCI-H2171 | NCI-H1770 | |
---|---|---|
Somatic rearrangements | 81 | 22 |
Intrachromosomal | 59 | 22 |
Deletions | 2 | 0 |
Tandem duplications | 9 | 2 |
Inversions | 2 | 1 |
Inverted duplication | 2a | 0 |
Within an amplicon | 44 | 19 |
Interchromosomal | 22 | 0 |
Between amplicons | 15 | 0 |
Amplicon to nonamplified region | 7 | 0 |
Outside amplicons | 0 | 0 |
Germline rearrangements | 244 | 62 |
Intrachromosomal | 243 | 62 |
Deletions | 233 | 58b |
AluY elements | 136 | 20 |
Other Alu elements | 8 | 1 |
LINE elements | 29 | 9 |
Other repeats | 8 | 3 |
Not repeat mediated | 52 | 25 |
Tandem duplications | 1 | 4 |
Inversions | 9 | 2 |
Interchromosomal | 1 | 0 |
The two breakpoints identified represent both ends of the same inverted duplication (see Supplementary Table 2).
Not all apparent deletions <1kb were screened in NCI-H1770 because of the high frequency of germline AluY deletions in NCI-H2171.