| Accession | HsInv0020 | Region of the inversion | chr11:61619073-61625057 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 5,614 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr11:61619073-61619444 |
| Ancestral orientation | NA | Breakpoint 2 | chr11:61624686-61625057 |
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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 | chr11:61619532-61619532 | Breakpoint 2 | chr11:61624597-61624597 | ||||
| Individuals |
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- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr11:61589425-61619249 | Breakpoint 2 | chr11:61623909-61657218 | ||||||||||||||||||||
| D/C Score | 0.56 | Disc. Support Prob. | 0.99958 | ||||||||||||||||||||
| Support | 19 probes  | ||||||||||||||||||||||
| 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 | Sequence analysis |
| Status | Breakpoint refinement |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr11:61619073-61619444 | Breakpoint 2 | chr11:61624686-61625057 | |||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||
| Description | Breakpoints defined by comparison with the HuRef Human Genome assembly and several sequenced fosmids and BACs | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.33 | GC content | 0.47 | Stability | 1.93 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 4.8-5.0 kb inverted SDs practically in tandem with 97.6% identity |
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Sequence features |
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Segmental duplications:
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Inverted repeats:
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+ 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2018-10-09 12:50:09
| Breakpoint 1 | chr11:61619073-61619444 | Breakpoint 2 | chr11:61624686-61625057 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the HuRef Human Genome assembly and several sequenced fosmids and BACs | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:26
| Breakpoint 1 | chr11:61618532-61619249 | Breakpoint 2 | chr11:61623909-61625597 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
