| Accession | HsInv0008 | Region of the inversion | chr1:245356729-245359039 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 311 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr1:245356729-245358729 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:245357039-245359039 |
| Comments | False inversion prediction caused by incorrect mapping due to sequence differences between inverted repeats
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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 | chr1:245357729-245357729 | Breakpoint 2 | chr1:245358039-245358039 | ||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||||
| Method | Genome sequence comparison |
| Status | False |
| Comment | Sequence analysis indicates that inversion prediction is caused by incorrect local mapping between HG18 and HuRef due to a variable sequence region within inverted repeats |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:245356729-245358729 | Breakpoint 2 | chr1:245357039-245359039 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.5 | GC content | 0.39 | Stability | 1.89 |
+ 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
- ZNF124
| Gene position | chr1:245351899-245401941 |
| 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 | chr1:245356729-245358729 | Breakpoint 2 | chr1:245357039-245359039 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
