| Accession | HsInv0633 | Region of the inversion | chr16:44922365-44991254 |
| Status | Validated | 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 |
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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 | chr16:44943079-44943258 | Breakpoint 2 | chr16:44983871-44983876 | ||||
| Individuals |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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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 | Genome sequence comparison |
| Status | Validated |
| Comment | Inversion confirmed by comparison with the Celera Human Genome assembly |
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
+ 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 | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| 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 10:15:00
| 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 | ||
| Definition method | Default informatic definition | ||
