| Accession | HsInv0060 | Region of the inversion | chr6:94797796-94798138 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 340 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.6500 | Mechanism of origin | FoSTeS |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:94797796^94797797 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr6:94798134-94798138 |
| Comments | Derived allele includes two deletions of 5 bp and 3.5 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 a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr6:94797618-94797774 | Breakpoint 2 | chr6:94797972-94798137 | ||||
| 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 | chr6:94797796-94797796 | Breakpoint 2 | chr6:94798133-94798133 | ||||
| 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 | 10 individuals: 8 HapMap/1000GP, 2 Other 2 STD/STD - 3 STD/INV - 5 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
|
Yoruba in Ibadan, Nigeria (YRI) (Vicente-Salvador et al. 2017) | 4 | 2 | 0.7500 | 0.2500 | > 0.5 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 2 | 0.7500 | 0.2500 | > 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
|
Utah residents with Northern and Western European ancestry (CEU) (Vicente-Salvador et al. 2017) | 2 | 4 | 0.0000 | 1.0000 | NA |
| Europe (EUR)
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Europe (EUR) summary | 2 | 4 | 0.0000 | 1.0000 | NA |
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+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
|
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)
|
East Asia (EAS) summary | 2 | 4 | 0.0000 | 1.0000 | NA |
|---|
+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
|
Unknown (Vicente-Salvador et al. 2017) | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
| Unknown
|
Unknown summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
|---|
+ Breakpoints
| Breakpoint 1 | chr6:94797796^94797797 | Breakpoint 2 | chr6:94798134-94798138 | ||
| Study | Vicente-Salvador et al. 2017 | ||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and one sequenced fosmid | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
FoSTeS
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| Flexibility | 11.38 | GC content | 0.24 | Stability | 1.7 |
| Comments |
Inverted region is flanked by two deletions of 5 bp and 3.5 kb, and was probably generated by two fork stalling and template switching (FoSTeS) events, at least one of which 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
- 2016-12-09 18:59:43
| Breakpoint 1 | chr6:94797796-94797797 | Breakpoint 2 | chr6:94798134-94798138 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and one sequenced fosmid | ||
| Definition method | Manual curation | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr6:94797174-94798218 | Breakpoint 2 | chr6:94797537-94798572 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@researchmar.net
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