| Accession | HsInv0939 | Region of the inversion | chr16:44922365-44991254 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 38,135 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:44922365-44960374 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:44967754-44991254 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr16:44951892-44952020 | Breakpoint 2 | chr16:44980881-44981012 | ||||
| Individuals |
| ||||||
| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr16:44946635-44946635 | Breakpoint 2 | chr16:44974564-44974564 | ||||||
| Individuals |
| ||||||||
| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||||
| Name | |||||||||
| Breakpoint 1 | chr16:44950925-44950925 | Breakpoint 2 | chr16:44977819-44977819 | ||||||
| Individuals |
| ||||||||
| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||||
| Name | |||||||||
| Breakpoint 1 | chr16:44953564-44953564 | Breakpoint 2 | chr16:44984444-44984444 | ||||||
| Individuals |
| ||||||||
| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||||
- 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 | chr16:44922365-44956305 | Breakpoint 2 | chr16:44971224-44990522 | ||||||||||||||||||||
| D/C Score | 0.51 | Disc. Support Prob. | 0.40849 | ||||||||||||||||||||
| Support | 60 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr16:44922365-44960374 | Breakpoint 2 | chr16:44967754-44991254 | ||
| 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
|
||||
| Flexibility | 6.03 | GC content | 0.19 | Stability | 0.94 |
+ 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 10:15:18
| Breakpoint 1 | chr16:44951420-44952492 | Breakpoint 2 | chr16:44980412-44981481 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:18
| Breakpoint 1 | chr16:44922365-44960374 | Breakpoint 2 | chr16:44967754-44991254 |
| 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 | ||
