| Accession | HsInv0113 | Region of the inversion | chr9:104362939-104374918 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 3,772 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr9:104362939-104371811 |
| Ancestral orientation | NA | Breakpoint 2 | chr9:104367373-104374918 |
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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 | chr9:104366811-104366811 | Breakpoint 2 | chr9:104372373-104372373 |
| Individuals | |||
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr9:104367939-104367939 | Breakpoint 2 | chr9:104372357-104372357 |
| Individuals | 321 out of 2504 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 | chr9:104367524-104367524 | Breakpoint 2 | chr9:104368108-104368108 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr9:104369309-104369309 | Breakpoint 2 | chr9:104372280-104372280 | ||||||
| Individuals |
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+ 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 | Validated |
| Comment | Tested in sample A139c |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr9:104362939-104371811 | Breakpoint 2 | chr9:104367373-104374918 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.74 | GC content | 0.45 | Stability | 1.91 |
+ 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
| Gene position | chr9:104321739-104459612 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr9:104362939-104371811 | Breakpoint 2 | chr9:104367373-104374918 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr9:104362939-104372939 | Breakpoint 2 | chr9:104367357-104374918 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr9:104362499-104374334 | Breakpoint 2 | chr9:104365470-104374918 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
