| Accession | HsInv0106 | Region of the inversion | chr9:67994583-68298521 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 287,397 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr9:67994583-68010793 |
| Ancestral orientation | NA | Breakpoint 2 | chr9:68281647-68298521 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr9:68001393-68001393 | Breakpoint 2 | chr9:68291711-68291711 | ||||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||||
| Name | |||||||||
| Breakpoint 1 | chr9:68003983-68003983 | Breakpoint 2 | chr9:68288457-68288457 | ||||||
| Individuals |
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| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||||
+ Validation and genotyping
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||
| Method | Genome sequence comparison |
| Status | Validated |
| Comment | Inversion confirmed by comparison with the Celera Human Genome assembly |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr9:67994583-68010793 | Breakpoint 2 | chr9:68281647-68298521 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.04 | GC content | 0.43 | Stability | 1.83 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:15:01
| Breakpoint 1 | chr9:67997173-68008203 | Breakpoint 2 | chr9:68284901-68295267 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr9:67994583-68010793 | Breakpoint 2 | chr9:68281647-68298521 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
