| Accession | HsInv0558 | Region of the inversion | chr16:68533329-73030682 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 4,334,373 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:68533329-68770268 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:72941660-73030682 |
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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 | chr16:68533329-68569041 | Breakpoint 2 | chr16:72997915-73030682 | ||||||||||||||||||||
| D/C Score | -2.49 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 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 | chr16:68703851-68713796 | Breakpoint 2 | chr16:72941660-72953198 | ||||||||||||||||||||
| D/C Score | -7.56 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 19 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 | chr16:68756957-68770268 | Breakpoint 2 | chr16:73016462-73025864 | ||||||||||||||||||||
| D/C Score | -9.01 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 9 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 | chr16:68533329-68770268 | Breakpoint 2 | chr16:72941660-73030682 | |||||||||||||||||||||||||||||||
| 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 | 10.47 | GC content | 0.53 | Stability | 2.03 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr16:68535000-68564256 | 29,257 | chr16:72991172-73020320 | 29,149 | 0.990 | Inverted |
| chr16:68563995-68584684 | 20,690 | chr16:72966071-72987217 | 21,147 | 0.977 | Inverted |
| chr16:68701753-68740955 | 39,203 | chr16:72923004-72963544 | 40,541 | 0.981 | Inverted |
| chr16:68756634-68795077 | 38,444 | chr16:72983126-73021683 | 38,558 | 0.991 | 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 10:14:39
| Breakpoint 1 | chr16:68533329-68770268 | Breakpoint 2 | chr16:72941660-73030682 |
| 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 10:14:39
| Breakpoint 1 | chr16:68533329-68770268 | Breakpoint 2 | chr16:73016462-73025864 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
