| Accession | HsInv0209 | Region of the inversion | chr11:70953485-70972446 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 11,935 bp | Supporting predictions | 3 |
| Inverted allele frequency | 0.0517 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr11:70953485-70960513 |
| Ancestral orientation | Standard | Breakpoint 2 | chr11:70965419-70972446 |
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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 | chr11:70958488-70958776 | Breakpoint 2 | chr11:70967258-70968054 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr11:70957796-70957905 | Breakpoint 2 | chr11:70968058-70968146 | ||||
| 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 | chr11:70925603-70960655 | Breakpoint 2 | chr11:70965541-70995740 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99915 | ||||||||||||||||||||
| Support | 6 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 83 individuals: 82 HapMap/1000GP, 1 Other 75 STD/STD - 5 STD/INV - 2 INV/INV - 1 ND |
- 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) (Aguado et al. 2014) | 7 | 4 | 0.7143 | 0.2857 | > 0.4 |
| Africa (AFR)
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Africa (AFR) summary | 7 | 4 | 0.7143 | 0.2857 | > 0.4 |
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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) (Aguado et al. 2014) | 48 | 2 | 0.9792 | 0.0208 | > 0.5 |
| Europe (EUR)
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Europe (EUR) summary | 48 | 2 | 0.9792 | 0.0208 | > 0.5 |
|---|
+ 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) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 0 | 1.0000 | 0.0000 | 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 (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Unknown
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Unknown summary | 1 | 0 | 1.0000 | 0.0000 | NA |
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+ Breakpoints
| Breakpoint 1 | chr11:70953485-70960513 | Breakpoint 2 | chr11:70965419-70972446 | |||||||||||||
| Description | Breakpoints defined as the most identical inverted segmental duplications | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 9.88 | GC content | 0.55 | Stability | 2.03 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 7 kb inverted SDs with 94% identity |
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Sequence features |
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Segmental duplications:
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+ Evolutionary history
| Ancestral allele | Standard | Age | ND |
| Derived allele | Inverted | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Standard | Inverse polymerase chain reaction (iPCR) | Aguado et al. 2014 |
| Gorilla | Standard | Inverse polymerase chain reaction (iPCR) | Aguado et al. 2014 |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:26
| Breakpoint 1 | chr11:70957305-70958396 | Breakpoint 2 | chr11:70967546-70968658 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:26
| Breakpoint 1 | chr11:70953485-70960513 | Breakpoint 2 | chr11:70965419-70972446 |
| Assembly | hg18 | ||
| Description | Breakpoints defined as the most identical inverted segmental duplications | ||
| Definition method | Manual curation | ||
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Contact us at invfestdb@uab.cat
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