| Accession | HsInv0686 | Region of the inversion | chr4:48950937-49015645 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 38,525 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr4:48950937-48981689 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:48994029-49015645 |
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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 | chr4:48950937-48981689 | Breakpoint 2 | chr4:48994029-49015645 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.3572 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr4:48961215-48994029 | Breakpoint 2 | chr4:49010434-49030649 | ||||||||||||||||||||
| D/C Score | -1.13 | Disc. Support Prob. | 0.0643 | ||||||||||||||||||||
| Support | 6 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr4:48950937-48981689 | Breakpoint 2 | chr4:48994029-49015645 | |||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.16 | GC content | 0.43 | Stability | 1.88 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr4:48970092-48997121 | 27,030 | chr4:49005799-49033698 | 27,900 | 0.986 | Inverted |
| chr4:48980042-48992209 | 12,168 | chr4:48992210-49004643 | 12,434 | 0.977 | Direct |
+ 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 10:14:54
| Breakpoint 1 | chr4:48950937-48981689 | Breakpoint 2 | chr4:48994029-49015645 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
