When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.
| Sequence variant tables - Summary |
||
| Substitutions (75): |
27.7% |  |
| Insertions (5): |
1.8% | |
| Deletions (69): |
25.5% | |
| Duplications (123): |
45.4% | |
| Insertion/Deletions (1): |
0.4% | |
| Translocations (3): |
1.1% | |
| Total (271) |
100% |
|
| Total unique (144) |
53.1% |
|
| Sequence variant tables - Summary - Sequence variants per exon |
||
| Exon 01 (254): |
93.7% |
|
| Exon 1 (2): |
0.7% |
|
| Exon 3' to FOXL2 (1): |
0.4% |
|
| Exon 3' UTR (1): |
0.4% |
|
| Exon 5' to FOXL2 (5): |
1.8% |
|
| Exon 5' to FOXL2, BPESC1 gene (1): |
0.4% |
|
| Exon 5' to FOXL2, MRPS22 gene (1): |
0.4% |
|
| Exon 5' UTR (1): |
0.4% |
|
| Exon Putative Core Promoter (5): |
1.8% |
|
| Sequence variant tables - Summary - Insertions |
||
| Insertions (5): Of which: |
1.8% |
|
| Unique Insertions (5): |
100% |
 |
| Sequence variant tables - Summary - Deletions |
||
| Deletions (69): Of which: |
25.5% |
|
| Unique Deletions (52): |
75.4% |
 |
| Sequence variant tables - Summary - Duplications |
||
| Duplications (123): Of which: |
45.4% |
|
| Unique Duplications (28): |
22.8% |
|
| Sequence variant tables - Summary - Insertion/Deletions |
||
| Insertion/Deletions (1): Of which: |
0.4% |
|
| Unique Insertion/Deletions (1): |
100% |
|
| Sequence variant tables - Summary - Translocations |
||
| Translocations (3): Of which: |
1.1% |
|
| Unique Translocations (3): |
100% |
|