| Accession | HsInv0117 | Region of the inversion | chr1:141476058-141913529 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 422,844 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:141476058-141490011 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:141898227-141913529 |
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Human Polymorphic Inversion DataBase
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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 | chr1:141482868-141482868 | Breakpoint 2 | chr1:141905037-141905037 | ||||||
| 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 | chr1:141483201-141483201 | Breakpoint 2 | chr1:141906719-141906719 | ||||||
| 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 | ||||||||
+ 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 | chr1:141476058-141490011 | Breakpoint 2 | chr1:141898227-141913529 | |||||||||||||
| 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
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| Flexibility | 10.1 | GC content | 0.45 | Stability | 1.88 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:141483791-141602271 | 118,481 | chr1:141792325-141909284 | 116,960 | 0.969 | 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 10:14:59
| Breakpoint 1 | chr1:141476391-141489678 | Breakpoint 2 | chr1:141899909-141911847 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:59
| Breakpoint 1 | chr1:141476058-141490011 | Breakpoint 2 | chr1:141898227-141913529 |
| 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 | ||
