| Accession | HsInv0403 | Region of the inversion | chrX:75278106-75289479 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 7,212 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.2941 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrX:75278106-75282269 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:75285318-75289479 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chrX:75278106-75278106 | Breakpoint 2 | chrX:75289480-75289480 | ||||
| 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 | chrX:75246509-75282963 | Breakpoint 2 | chrX:75285412-75321973 | ||||||||||||||||||||
| D/C Score | 0.36 | Disc. Support Prob. | 0.99869 | ||||||||||||||||||||
| Support | 5 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 | 77 individuals: 76 HapMap/1000GP, 1 Other 22 STD/STD - 16 STD/INV - 6 INV/INV - 25 STD - 8 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 | 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 | 4 | 0.4286 | 0.5714 | > 0.2 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 4 | 0.4286 | 0.5714 | > 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) (Aguado et al. 2014) | 49 | 18 | 0.7500 | 0.2500 | > 0.1 |
| Europe (EUR)
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Europe (EUR) summary | 49 | 18 | 0.7500 | 0.2500 | > 0.1 |
|---|
+ 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) (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 | 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 (Aguado et al. 2014) | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
| Unknown
|
Unknown summary | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
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+ Breakpoints
| Breakpoint 1 | chrX:75278106-75282269 | Breakpoint 2 | chrX:75285318-75289479 | ||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||||
| Description | Breakpoints defined by comparison with the updated HG19 Human Reference assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.73 | GC content | 0.26 | Stability | 1.74 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between between 4.3 kb inverted duplications of unique and repetitive sequence with >99% identity |
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+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Polymorphic | 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chrX:75273106-75282963 | Breakpoint 2 | chrX:75285412-75294480 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:37
| Breakpoint 1 | chrX:75246509-75282963 | Breakpoint 2 | chrX:75285412-75321973 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:37
| Breakpoint 1 | chrX:75278106-75282269 | Breakpoint 2 | chrX:75285318-75289479 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the updated HG19 Human Reference assembly | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona
Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.