Table 1 The 21 PEM patterns with their corresponding SV type
From: The fine-scale architecture of structural variants in 17 mouse genomes
PEM pattern | Brief description | SV type |
|---|---|---|
H1 | Deletion of unique sequence | Simple |
H2 | Deletion of repeat sequence (for example, LINE, SINE, ERV) | Simple |
H3 | Deletions separated by small normal copy (Del+Nml+Del) | Simple |
H4 | Typical inversion | Simple |
H5 | Inversion co-occurring with deletion(s) | Complex |
H6 | Insertion of unique sequence (de novo sequence) | Simple |
H7 | Insertion of repeat sequence (for example, LINE, SINE, ERV) | Simple |
H8 | Tandem duplication | Simple |
H9 | Inverted tandem duplication | Complex |
H10 | Dispersed copy number gains | Simple |
H11 | Deletion or inversion within copy number gain | Complex |
Q1 | Deletion due to microsatellite size polymorphism | Simple |
Q2 | Deletion of unique sequence co-occurring with insertion | Complex |
Q3 | Deletion of repeat sequence co-occurring with insertion | Complex |
Q4 | Large deletion | Simple |
Q5 | Linked small gain causing a false deletion | Simple |
Q6 | False deletion due to retrotransposed pseudogene | False |
Q7 | Deletion due to VNTR | VNTR |
Q8 | Inversion co-occurring with insertion | Complex |
Q9 | Inverted linked small gain causing a false inversion | Simple |
Q10 | False inversion due to inverted retrotransposed pseudogene | False |