| Accession | HsInv0068 | Region of the inversion | chr9:76087959-76088213 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 253 bp | Supporting predictions | 4 |
| Inverted allele frequency | 0.7917 | Mechanism of origin | FoSTeS |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr9:76087959-76087960 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr9:76088210-76088213 |
| Comments | Derived allele includes two deletions of 1.2 kb and 0.3 kb flanking the inverted region
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr9:76087856-76087856 | Breakpoint 2 | chr9:76088212-76088257 | ||||
| Individuals |
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| 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 | chr9:76087023-76087023 | Breakpoint 2 | chr9:76088026-76088026 | ||||||
| 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 | chr9:76087960-76087960 | Breakpoint 2 | chr9:76088209-76088209 | ||||
| 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 | chr9:76050389-76087959 | Breakpoint 2 | chr9:76088119-76137113 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99983 | ||||||||||||||||||||
| Support | 3 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 | Polymerase chain reaction (PCR) |
| Status | Validated |
| Genotyping | 98 individuals: 96 HapMap/1000GP, 2 Other 2 STD/STD - 37 STD/INV - 59 INV/INV |
- Frequency
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+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
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Yoruba in Ibadan, Nigeria (YRI) (Vicente-Salvador et al. 2017) | 4 | 7 | 0.1250 | 0.8750 | > 0.5 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 7 | 0.1250 | 0.8750 | > 0.5 |
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+ Europe (EUR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Northwestern European
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Utah residents with Northern and Western European ancestry (CEU) (Vicente-Salvador et al. 2017) | 64 | 99 | 0.2266 | 0.7734 | > 0.3 |
| Europe (EUR)
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Europe (EUR) summary | 64 | 99 | 0.2266 | 0.7734 | > 0.3 |
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+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
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Han Chinese in Beijing, China (CHB) (Vicente-Salvador et al. 2017) | 1 | 2 | 0.0000 | 1.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Vicente-Salvador et al. 2017) | 1 | 2 | 0.0000 | 1.0000 | NA |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 4 | 0.0000 | 1.0000 | NA |
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
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Unknown (Vicente-Salvador et al. 2017) | 2 | 4 | 0.0000 | 1.0000 | NA |
| Unknown
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Unknown summary | 2 | 4 | 0.0000 | 1.0000 | NA |
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+ Breakpoints
| Breakpoint 1 | chr9:76087959-76087960 | Breakpoint 2 | chr9:76088210-76088213 | ||
| Study | Vicente-Salvador et al. 2017 | ||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
FoSTeS
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| Flexibility | 11.21 | GC content | 0.42 | Stability | 1.79 |
| Comments |
Inverted region is flanked by two deletions of 1.2 kb and 0.3 kb, and was probably generated by two fork stalling and template switching (FoSTeS) events mediated by microhomology |
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+ Evolutionary history
| Ancestral allele | Inverted | Age | ND |
| Derived allele | Standard | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Inverted | Polymerase chain reaction (PCR) | Vicente-Salvador et al. 2017 |
| Gorilla | Inverted | Polymerase chain reaction (PCR) | Vicente-Salvador et al. 2017 |
| Rhesus macaque | Inverted | Genome sequence comparison | Vicente-Salvador et al. 2017 |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2018-11-06 12:21:51
| Breakpoint 1 | chr9:76087959-76087960 | Breakpoint 2 | chr9:76088210-76088213 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:36
| Breakpoint 1 | chr9:76086960-76087959 | Breakpoint 2 | chr9:76088119-76089209 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
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