| Accession | HsInv0279 | Region of the inversion | chr5:69651037-69717274 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 47,753 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr5:69651037-69657542 |
| Ancestral orientation | NA | Breakpoint 2 | chr5:69686809-69717274 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr5:69651037-69657542 | Breakpoint 2 | chr5:69686809-69717274 | ||||||||||||||||||||
| D/C Score | -0.93 | Disc. Support Prob. | 0.00028 | ||||||||||||||||||||
| Support | 4 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr5:69651037-69657542 | Breakpoint 2 | chr5:69686809-69717274 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.73 | GC content | 0.33 | Stability | 1.78 |
+ 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
- SMA4
| Gene position | chr5:68713442-69917303 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:33
| Breakpoint 1 | chr5:69651037-69657542 | Breakpoint 2 | chr5:69686809-69717274 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
