| Accession | HsInv0116 | Region of the inversion | chr9:66189745-67910343 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 1,706,979 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr9:66189745-66203365 |
| Ancestral orientation | NA | Breakpoint 2 | chr9:67896723-67910343 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| 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 | chr9:66196555-66196555 | Breakpoint 2 | chr9:67903533-67903533 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr9:66197896-66197896 | Breakpoint 2 | chr9:67903028-67903028 | ||||||
| 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 | chr9:66196478-66230451 | Breakpoint 2 | chr9:67855631-67904343 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| 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 | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr9:66189745-66203365 | Breakpoint 2 | chr9:67896723-67910343 | |||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
|
|||||||||||||||
| Flexibility | 9.72 | GC content | 0.53 | Stability | 2.13 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr9:66194477-66229722 | 35,246 | chr9:67867278-67902342 | 35,065 | 0.980 | 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 10:14:58
| Breakpoint 1 | chr9:66196478-66203365 | Breakpoint 2 | chr9:67896723-67904343 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:58
| Breakpoint 1 | chr9:66189745-66203365 | Breakpoint 2 | chr9:67896723-67910343 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
