| Accession | HsInv0997 | Region of the inversion | chr14:66239581-66242224 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,652 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr14:66239581-66240483 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:66241142-66242224 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| 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 | chr14:66240081-66240081 | Breakpoint 2 | chr14:66241459-66241459 |
| Individuals | 1548 out of 2504 individuals
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr14:66239883-66240181 | Breakpoint 2 | chr14:66241624-66241742 | ||||
| Individuals |
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+ Validation and genotyping
| 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 fosmids, PacBio long reads from CHM1 genome |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:66239581-66240483 | Breakpoint 2 | chr14:66241142-66242224 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.13 | GC content | 0.42 | Stability | 1.85 |
+ 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
- GPHN
| Gene position | chr14:66043877-66718278 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-18 00:00:00
| Breakpoint 1 | chr14:66239581-66240483 | Breakpoint 2 | chr14:66241142-66242224 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:16
| Breakpoint 1 | chr14:66239581-66240483 | Breakpoint 2 | chr14:66241142-66242224 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
