| Accession | HsInv0036 | Region of the inversion | chr18:12131460-12140144 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 5,064 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.6500 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr18:12131460-12135081 |
| Ancestral orientation | NA | Breakpoint 2 | chr18:12136523-12140144 |
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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 | chr18:12134389-12134389 | Breakpoint 2 | chr18:12137214-12137214 | ||||
| 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 | chr18:12098374-12134153 | Breakpoint 2 | chr18:12136368-12173000 | ||||||||||||||||||||
| D/C Score | -0.26 | Disc. Support Prob. | 0.95797 | ||||||||||||||||||||
| Support | 7 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 | 10 individuals: 8 HapMap/1000GP, 2 Other 7 STD/INV - 3 INV/INV |
| Comment | Inversion validated in 10 individuals of diverse origin by long-range PCR |
- 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 | 5 | 0.3750 | 0.6250 | > 0.2 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 5 | 0.3750 | 0.6250 | > 0.2 |
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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) | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
| Europe (EUR)
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Europe (EUR) summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
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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 | 1 | 0.5000 | 0.5000 | > 0.3 |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Vicente-Salvador et al. 2017) | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 2 | 0.5000 | 0.5000 | > 0.1 |
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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 | 3 | 0.2500 | 0.7500 | > 0.5 |
| Unknown
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Unknown summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
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+ Breakpoints
| Breakpoint 1 | chr18:12131460-12135081 | Breakpoint 2 | chr18:12136523-12140144 | |||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.39 | GC content | 0.59 | Stability | 2.05 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 3.6 kb inverted repeats formed by different types of repetitive sequences with 99.9% identity |
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Sequence features |
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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
- 2018-10-15 16:56:51
| Breakpoint 1 | chr18:12131460-12135081 | Breakpoint 2 | chr18:12136523-12140144 |
| 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 10:14:30
| Breakpoint 1 | chr18:12133389-12134153 | Breakpoint 2 | chr18:12136368-12138214 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
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