| Accession | HsInv0612 | Region of the inversion | chr4:112226693-112228269 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 845 bp | Supporting predictions | 3 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr4:112226693-112227442 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:112227555-112228269 |
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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 | chr4:112227298-112227298 | Breakpoint 2 | chr4:112227669-112227669 |
| 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 | chr4:112226834-112226834 | Breakpoint 2 | chr4:112227921-112227921 |
| Individuals | 288 out of 2504 individuals
 | ||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:112226842-112227293 | Breakpoint 2 | chr4:112227669-112228155 | ||||
| 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 | Inconclusive |
| Comment | Tested in sample A119d. PCR assay failed. |
| 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 | Sequence analysis |
| Status | False |
| Comment | Inverted duplication validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr4:112226693-112227442 | Breakpoint 2 | chr4:112227555-112228269 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 11.21 | GC content | 0.34 | Stability | 1.8 |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr4:112226693-112227442 | Breakpoint 2 | chr4:112227555-112228269 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr4:112226693-112227442 | Breakpoint 2 | chr4:112227555-112228269 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:08
| Breakpoint 1 | chr4:112226693-112227442 | Breakpoint 2 | chr4:112227555-112228269 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
