| Accession | HsInv0588 | Region of the inversion | chr20:47211519-47265689 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 31,447 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts different exons and introns of a gene | Breakpoint 1 | chr20:47211519-47227960 |
| Ancestral orientation | NA | Breakpoint 2 | chr20:47236682-47265689 |
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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 | chr20:47211519-47227960 | Breakpoint 2 | chr20:47236682-47265689 | ||||||||||||||||||||
| D/C Score | -1.67 | Disc. Support Prob. | 0.00005 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Analysis of fosmids supporting the inversion indicates that all of them have one end-read mapping in same region caused probably by misspriming of sequencing primer inside the fosmid. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr20:47211519-47227960 | Breakpoint 2 | chr20:47236682-47265689 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.25 | GC content | 0.32 | Stability | 1.74 |
+ 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
- STAU1
| Gene position | chr20:47163282-47238311 |
| Mechanism | Inverts different exons and introns of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:31
| Breakpoint 1 | chr20:47211519-47227960 | Breakpoint 2 | chr20:47236682-47265689 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
