| Accession | HsInv1124 | Region of the inversion | chr9:114907364-114921411 |
| Status | Validated | Prediction type | Complex |
| Estimated Inversion Size | 7,625 bp | Supporting predictions | 3 |
| Inverted allele frequency | 0.6042 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr9:114907364-114913787 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr9:114914988-114921411 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr9:114904808-114913348 | Breakpoint 2 | chr9:114915155-114922900 | ||||
| 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 | chr9:114913782-114913782 | Breakpoint 2 | chr9:114914991-114914991 | ||||
| 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 | chr9:114881984-114909510 | Breakpoint 2 | chr9:114919415-114945930 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.9271 | ||||||||||||||||||||
| Support | 12 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 | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 98 individuals: 96 HapMap/1000GP, 2 Other 13 STD/STD - 49 STD/INV - 36 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 | 5 | 0.3750 | 0.6250 | > 0.3 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 5 | 0.3750 | 0.6250 | > 0.3 |
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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 | 79 | 0.3828 | 0.6172 | > 0.2 |
| Europe (EUR)
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Europe (EUR) summary | 64 | 79 | 0.3828 | 0.6172 | > 0.2 |
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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 | 0 | 1.0000 | 0.0000 | 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 | 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 | 1 | 0.7500 | 0.2500 | > 0.5 |
| Unknown
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Unknown summary | 2 | 1 | 0.7500 | 0.2500 | > 0.5 |
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+ Breakpoints
| Breakpoint 1 | chr9:114907364-114913787 | Breakpoint 2 | chr9:114914988-114921411 | |||||||||||||
| 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 |
NAHR
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| Flexibility | 10.51 | GC content | 0.46 | Stability | 1.95 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 7.0 kb inverted SDs with 98.6% identity |
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Sequence features |
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Segmental duplications:
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Inverted repeats:
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+ Evolutionary history
| Ancestral allele | Inverted | Age | ND |
| Derived allele | Standard | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Gorilla | Inverted | Inverse polymerase chain reaction (iPCR) | 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
HsInv0321 and HsInv0069 merge into HsInv1124
- 2018-11-07 16:42:29
| Breakpoint 1 | chr9:114907364-114913787 | Breakpoint 2 | chr9:114914988-114921411 |
| 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 | ||
- 2016-11-28 17:00:18
| Breakpoint 1 | chr9:114896975-114914782 | Breakpoint 2 | chr9:114913991-114931528 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
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