| Accession | HsInv0780 | Region of the inversion | chr16:14857191-14934166 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 39,774 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr16:14857191-14897013 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:14899583-14934166 |
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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 | chr16:14857191-14897013 | Breakpoint 2 | chr16:14899583-14934166 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.63038 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr16:14889648-14897488 | Breakpoint 2 | chr16:14933153-14939907 | ||||||||||||||||||||
| D/C Score | -5.53 | Disc. Support Prob. | 0.00001 | ||||||||||||||||||||
| Support | 37 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 | chr16:14857191-14897013 | Breakpoint 2 | chr16:14899583-14934166 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.97 | GC content | 0.42 | Stability | 1.81 |
+ 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
- NOMO1
| Gene position | chr16:14835143-14897515 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:50
| Breakpoint 1 | chr16:14889648-14897013 | Breakpoint 2 | chr16:14933153-14934166 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:50
| Breakpoint 1 | chr16:14857191-14897013 | Breakpoint 2 | chr16:14899583-14934166 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
