| Accession | HsInv0410 | Region of the inversion | chrX:47835979-47840376 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 3,346 bp | Supporting predictions | 1 |
| Inverted allele frequency | 0.0588 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrX:47835979-47837031 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:47839324-47840376 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- 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:47797528-47838729 | Breakpoint 2 | chrX:47840438-47875385 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.96484 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | prediction outside of the current location of the inversion breakpoints | ||||||||||||||||||||||
+ Validation and genotyping
-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 | Polymerase chain reaction (PCR) |
| Status | Validated |
| Genotyping | 10 individuals: 8 HapMap/1000GP, 2 Other 7 STD/STD - 1 STD/INV - 1 STD - 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) (Martinez-Fundichely et al. 2014 (in preparation)) | 4 | 0 | 1.0000 | 0.0000 | NA |
| Africa (AFR)
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Africa (AFR) summary | 4 | 0 | 1.0000 | 0.0000 | NA |
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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) (Martinez-Fundichely et al. 2014 (in preparation)) | 2 | 0 | 1.0000 | 0.0000 | NA |
| Europe (EUR)
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Europe (EUR) summary | 2 | 0 | 1.0000 | 0.0000 | NA |
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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) (Martinez-Fundichely et al. 2014 (in preparation)) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Martinez-Fundichely et al. 2014 (in preparation)) | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 1 | 0.7500 | 0.2500 | > 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 (Martinez-Fundichely et al. 2014 (in preparation)) | 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 | chrX:47835979-47837031 | Breakpoint 2 | chrX:47839324-47840376 | |||||||||||||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | |||||||||||||||
| Description | Breakpoints defined as the longest region of 100% identity between the inverted segmental duplications | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.31 | GC content | 0.54 | Stability | 2.03 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 1.8/2.0 kb inverted SDs with 98% identity |
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Sequence features |
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Segmental duplications:
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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
- 2015-02-23 10:14:37
| Breakpoint 1 | chrX:47797528-47838729 | Breakpoint 2 | chrX:47840438-47875385 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:37
| Breakpoint 1 | chrX:47835979-47837031 | Breakpoint 2 | chrX:47839324-47840376 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined as the longest region of 100% identity between the inverted segmental duplications | ||
| Definition method | Manual curation | ||
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Contact us at invfestdb@uab.cat
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