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Structural variations detected among 91 index patients
| Clinical group: patient number | Location | Genomic position (GRCh37/hg19)/dbSNP (rs) | Approximate size (kb) | Classification* |
|---|---|---|---|---|
| III:65 | Upstream SMAD4 | hg19/chr18:g.48537165_48539080del | 1.9 | 3 |
| I:6 | Intron 1 CDH1 | hg19/Chr16:g.68802080_68826280dup | 24.2 | 3 |
| I:34 | Upstream MSH3 | hg19/Chr5:g.79902126_79904625del | 2.5 | 3 |
| I:57 | Upstream CTNNB1 | hg19/Chr3:g.41200986_41203204del | 2.2 | 3 |
* manual classification
