| Accession | HsInv1864 | Region of the inversion | chr8:140574443-140687094 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 102,652 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr8:140574443-140584443 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:140677094-140687094 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr8:140579443-140579443 | Breakpoint 2 | chr8:140682094-140682094 |
| Individuals | |||
+ Validation and genotyping
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Inconclusive |
| Comment | Tested in sample A69c. PCR assay failed. |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr8:140574443-140584443 | Breakpoint 2 | chr8:140677094-140687094 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 0.54 | GC content | 0 | Stability | 0 |
+ 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
- 2017-12-15 00:00:00
| Breakpoint 1 | chr8:140574443-140584443 | Breakpoint 2 | chr8:140677094-140687094 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
