| Accession | HsInv0324 | Region of the inversion | chr5:115374276-115379425 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 4,244 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts different exons and introns of a gene | Breakpoint 1 | chr5:115374276-115375018 |
| Ancestral orientation | NA | Breakpoint 2 | chr5:115378355-115379425 |
| Comments | False inversion prediction caused by 158-bp inverted duplication
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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 | chr5:115374637-115374637 | Breakpoint 2 | chr5:115378803-115378803 |
| Individuals | |||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr5:115374418-115374876 | Breakpoint 2 | chr5:115378825-115378955 | ||||
| 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 A126c |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr5:115374276-115375018 | Breakpoint 2 | chr5:115378355-115379425 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.69 | GC content | 0.39 | Stability | 1.81 |
+ 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
- AQPEP
| Gene position | chr5:115326049-115391198 |
| Mechanism | Inverts different exons and introns of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr5:115374276-115375018 | Breakpoint 2 | chr5:115378355-115379425 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:08
| Breakpoint 1 | chr5:115374276-115375018 | Breakpoint 2 | chr5:115378355-115379425 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
