| Accession | HsInv0212 | Region of the inversion | chr4:168346637-168357080 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 547 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 | chr4:168346637-168356637 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:168347286-168357080 |
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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 | chr4:168351637-168351637 | Breakpoint 2 | chr4:168352080-168352080 |
| Individuals | 738 out of 2504 individuals
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| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:168351443-168351648 | Breakpoint 2 | chr4:168351819-168352847 | ||||
| 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 | Validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr4:168346637-168356637 | Breakpoint 2 | chr4:168347286-168357080 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 12.18 | GC content | 0.33 | Stability | 1.75 |
+ 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
- SPOCK3
| Gene position | chr4:167891110-168392316 |
| 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 | chr4:168346637-168356637 | Breakpoint 2 | chr4:168347286-168357080 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:02
| Breakpoint 1 | chr4:168346087-168357004 | Breakpoint 2 | chr4:168347286-168357380 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
