| Accession | HsInv0017 | Region of the inversion | chr10:93190197-93198894 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 5,663 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr10:93190197-93193232 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:93195859-93198894 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr10:93190133-93190133 | Breakpoint 2 | chr10:93193995-93193995 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:93191655-93191655 | Breakpoint 2 | chr10:93197436-93197436 | ||||
| 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 | chr10:93158473-93193262 | Breakpoint 2 | chr10:93195596-93230586 | ||||||||||||||||||||
| D/C Score | -0.29 | Disc. Support Prob. | 0.99858 | ||||||||||||||||||||
| Support | 10 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 | Validated |
| Comment | Inversion validated by a sequenced fosmid clearly supporting the Inv orientation and several fosmid paired-end sequences supporting the Std and Inv orientation |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr10:93190197-93193232 | Breakpoint 2 | chr10:93195859-93198894 | |||||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||||
| Description | Breakpoints defined by comparison with the HuRef Human Genome assembly and one sequenced fosmid | |||||||||||||||||
| Definition method | Manual curation | |||||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 11 | GC content | 0.49 | Stability | 1.9 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 5.5 kb inverted L1PA7 elements with 94.1% identity |
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Sequence features |
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Transposable elements:
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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
- HECTD2
| Gene position | chr10:93160075-93212947 |
| Mechanism | Inverts a region within an intron of a gene |
| Gene position | chr10:93056698-93361197 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2018-10-09 11:45:40
| Breakpoint 1 | chr10:93190197-93193232 | Breakpoint 2 | chr10:93195859-93198894 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the HuRef Human Genome assembly and one sequenced fosmid | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:26
| Breakpoint 1 | chr10:93190655-93192655 | Breakpoint 2 | chr10:93196436-93198436 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
