| Accession | HsInv1117 | Region of the inversion | chr10:4994347-5037315 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 42,441 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Breaks one gene | Breakpoint 1 | chr10:4994347-4994874 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:5036787-5037315 |
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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 | chr10:4994874-4994874 | Breakpoint 2 | chr10:5036786-5036786 | ||||
| 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 | chr10:4991097-4991503 | Breakpoint 2 | chr10:5032273-5050548 | ||||||||||||||||||||
| D/C Score | -1.66 | Disc. Support Prob. | 0.00006 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | prediction outside of the current location of the inversion breakpoints Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ 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 | chr10:4994347-4994874 | Breakpoint 2 | chr10:5036787-5037315 | |||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||
| Description | Breakpoints defined by comparison with the HuRef and CHM1 Human Genome assembly and two sequenced fosmids | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.51 | GC content | 0.25 | Stability | 1.74 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 47-57 kb inverted SDs with 94.8% identity |
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Sequence features |
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Segmental duplications:
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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
- AKR1C2
| Gene position | chr10:5019967-5050225 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
HsInv0326 and HsInv0014 merge into HsInv1117
- 2018-11-07 11:40:37
| Breakpoint 1 | chr10:4994347-4994874 | Breakpoint 2 | chr10:5036787-5037315 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the HuRef and CHM1 Human Genome assembly and two sequenced fosmids | ||
| Definition method | Manual curation | ||
- 2016-11-28 13:58:57
| Breakpoint 1 | chr10:4991097-4995874 | Breakpoint 2 | chr10:5032273-5050548 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
