| Accession | HsInv0857 | Region of the inversion | chr16:44922515-44974466 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 35,688 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:44922515-44944043 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:44963465-44974466 |
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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 a Korean individual genome | ||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr16:44943304-44943489 | Breakpoint 2 | chr16:44974308-44974668 | ||||
| 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 | ||||||||
- 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 | chr16:44922515-44944043 | Breakpoint 2 | chr16:44963465-44974466 | ||||||||||||||||||||
| D/C Score | 1.23 | Disc. Support Prob. | 0.86963 | ||||||||||||||||||||
| Support | 38 probes  | ||||||||||||||||||||||
| Individuals |
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| 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 |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr16:44922515-44944043 | Breakpoint 2 | chr16:44963465-44974466 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 5.95 | GC content | 0.19 | Stability | 0.92 |
+ 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 10:14:43
| Breakpoint 1 | chr16:44942889-44943904 | Breakpoint 2 | chr16:44974068-44974466 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:43
| Breakpoint 1 | chr16:44922515-44944043 | Breakpoint 2 | chr16:44963465-44974466 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
