| Accession | HsInv0005 | Region of the inversion | chr1:200051521-200052108 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 346 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr1:200051521-200051763 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:200051866-200052108 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:200051763-200051763 | Breakpoint 2 | chr1:200051865-200051865 | ||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:200051521-200051763 | Breakpoint 2 | chr1:200051866-200052108 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.25 | GC content | 0.48 | Stability | 2.01 |
+ 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
- NAV1
| Gene position | chr1:199975585-200062725 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:15:23
| Breakpoint 1 | chr1:200051521-200051763 | Breakpoint 2 | chr1:200051866-200052108 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:23
| Breakpoint 1 | chr1:200050763-200052763 | Breakpoint 2 | chr1:200050865-200052865 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
