| Accession | HsInv0808 | Region of the inversion | chr22:20126391-20180436 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 45,201 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr22:20126391-20135787 |
| Ancestral orientation | NA | Breakpoint 2 | chr22:20172141-20180436 |
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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 | chr22:20126391-20135787 | Breakpoint 2 | chr22:20172141-20180436 | ||||||||||||||||||||
| D/C Score | -4.83 | Disc. Support Prob. | 0.00007 | ||||||||||||||||||||
| Support | 18 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr22:20126391-20135787 | Breakpoint 2 | chr22:20172141-20180436 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 9.79 | GC content | 0.65 | Stability | 2.21 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr22:20057110-20127378 | 70,269 | chr22:20176051-20247116 | 71,066 | 0.996 | Inverted |
+ 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
- PI4KAP2
| Gene position | chr22:20157286-20201780 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:43
| Breakpoint 1 | chr22:20126391-20135787 | Breakpoint 2 | chr22:20172141-20180436 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
