| Accession | HsInv0227 | Region of the inversion | chr9:66207334-66219359 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 7,584 bp | Supporting predictions | 6 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr9:66207334-66208640 |
| Ancestral orientation | NA | Breakpoint 2 | chr9:66211780-66219359 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr9:66208975-66209025 | Breakpoint 2 | chr9:66213798-66214218 | ||||
| Individuals |
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| Name | |||||||
| Breakpoint 1 | chr9:66203079-66203121 | Breakpoint 2 | chr9:66213798-66214218 | ||||
| Individuals |
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| 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 | chr9:66201300-66201300 | Breakpoint 2 | chr9:66212173-66212173 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr9:66201576-66201576 | Breakpoint 2 | chr9:66212693-66212693 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr9:66214144-66214144 | Breakpoint 2 | chr9:66218590-66218590 | ||||||
| Individuals |
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- 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 | chr9:66171143-66209897 | Breakpoint 2 | chr9:66214027-66250983 | ||||||||||||||||||||
| D/C Score | 0.61 | Disc. Support Prob. | 0.99975 | ||||||||||||||||||||
| Support | 42 probes  | ||||||||||||||||||||||
| Individuals |
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+ 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 |
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr9:66207334-66208640 | Breakpoint 2 | chr9:66211780-66219359 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.56 | GC content | 0.33 | Stability | 1.74 |
+ 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 | chr9:66207334-66208640 | Breakpoint 2 | chr9:66211780-66219359 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
