| Accession | HsInv0241 | Region of the inversion | chr2:241264234-241286847 |
| Status | Validated | Prediction type | Complex |
| Estimated Inversion Size | 16,232 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.2143 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:241264234-241270541 |
| Ancestral orientation | Standard | Breakpoint 2 | chr2:241280391-241286847 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr2:241275279-241275279 | Breakpoint 2 | chr2:241276566-241276566 |
| Individuals | 6 out of 2504 individuals
 | ||
- 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 | chr2:241247448-241271097 | Breakpoint 2 | chr2:241281944-241308158 | ||||||||||||||||||||
| D/C Score | -0.67 | Disc. Support Prob. | 0.92813 | ||||||||||||||||||||
| Support | 30 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 77 individuals: 76 HapMap/1000GP, 1 Other 47 STD/STD - 25 STD/INV - 5 INV/INV |
-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 | Fosmid sequence analysis |
| Status | Validated |
| Method | Fosmid sequence analysis |
| Status | Validated |
- 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) | 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 |
|---|
+ 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) | 49 | 16 | 0.8367 | 0.1633 | > 0.5 |
| Europe (EUR)
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Europe (EUR) summary | 49 | 16 | 0.8367 | 0.1633 | > 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) (Aguado et al. 2014) | 1 | 2 | 0.0000 | 1.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Aguado et al. 2014) | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
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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 | chr2:241264234-241270541 | Breakpoint 2 | chr2:241280391-241286847 | |||||||||||||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | |||||||||||||||
| Description | Complete sequenced Fosmid analisis | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 9.66 | GC content | 0.63 | Stability | 2.12 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 13 kb inverted SDs with 99% 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 | Polymorphic | 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
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:241270279-241271097 | Breakpoint 2 | chr2:241271566-241308158 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:241264234-241270541 | Breakpoint 2 | chr2:241280391-241286847 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Complete sequenced Fosmid analisis | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:241264234-241270541 | Breakpoint 2 | chr2:241280391-241286847 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Complete sequenced Fosmid analisis | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:241247448-241271097 | Breakpoint 2 | chr2:241281944-241308158 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.