| Accession | HsInv0224 | Region of the inversion | chr8:100226499-100227806 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 389 bp | Supporting predictions | 3 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr8:100226499-100227355 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:100226823-100227806 |
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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 | chr8:100227181-100227181 | Breakpoint 2 | chr8:100227433-100227433 |
| 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 | chr8:100226789-100226789 | Breakpoint 2 | chr8:100227492-100227492 |
| Individuals | 770 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 | chr8:100226755-100227099 | Breakpoint 2 | chr8:100227206-100227423 | ||||
| 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 A105a. 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 | chr8:100226499-100227355 | Breakpoint 2 | chr8:100226823-100227806 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.58 | GC content | 0.41 | Stability | 1.86 |
+ 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
- VPS13B
| Gene position | chr8:100094669-100958990 |
| 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 | chr8:100226499-100227355 | Breakpoint 2 | chr8:100226823-100227806 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr8:100226499-100227355 | Breakpoint 2 | chr8:100226823-100227806 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:12
| Breakpoint 1 | chr8:100226499-100227355 | Breakpoint 2 | chr8:100226823-100227806 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
