| Accession | HsInv0586 | Region of the inversion | chr20:45890930-45968500 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 64,129 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr20:45890930-45899989 |
| Ancestral orientation | NA | Breakpoint 2 | chr20:45950675-45968500 |
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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 | chr20:45894758-45899989 | Breakpoint 2 | chr20:45964291-45968500 | ||||||||||||||||||||
| D/C Score | -10.45 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 14 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 | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr20:45890930-45896243 | Breakpoint 2 | chr20:45950675-45955988 | ||||||||||||||||||||
| D/C Score | -8.7 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 15 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 | chr20:45890930-45899989 | Breakpoint 2 | chr20:45950675-45968500 | |||||||||||||
| 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 | 9.79 | GC content | 0.52 | Stability | 1.9 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr20:45887213-45903153 | 15,941 | chr20:45950402-45968382 | 17,981 | 0.982 | 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:40
| Breakpoint 1 | chr20:45890930-45899989 | Breakpoint 2 | chr20:45950675-45968500 |
| 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 | ||
- 2015-02-23 10:14:40
| Breakpoint 1 | chr20:45894758-45896243 | Breakpoint 2 | chr20:45950675-45968500 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
