| Accession | HsInv0832 | Region of the inversion | chrY:16466516-16543014 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 40,248 bp | Supporting predictions | 1 |
| Inverted allele frequency | 0.0370 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrY:16466516-16511744 |
| Ancestral orientation | ND | Breakpoint 2 | chrY:16515740-16543014 |
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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 | chrY:16466516-16511744 | Breakpoint 2 | chrY:16515740-16543014 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99996 | ||||||||||||||||||||
| Support | 3 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 | 34 individuals: 34 HapMap/1000GP 32 STD - 2 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) (Aguado et al. 2014) | 1 | 1 | 0.0000 | 1.0000 | NA |
| Africa (AFR)
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Africa (AFR) summary | 1 | 1 | 0.0000 | 1.0000 | 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) (Aguado et al. 2014) | 26 | 0 | 1.0000 | 0.0000 | NA |
| Europe (EUR)
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Europe (EUR) summary | 26 | 0 | 1.0000 | 0.0000 | NA |
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+ Breakpoints
| Breakpoint 1 | chrY:16466516-16511744 | Breakpoint 2 | chrY:16515740-16543014 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.62 | GC content | 0.45 | Stability | 1.89 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chrY:16496132-16504854 | 8,723 | chrY:16517493-16526218 | 8,726 | 1.000 | Inverted |
+ Evolutionary history
| Ancestral allele | ND | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Inverted | 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 10:14:38
| Breakpoint 1 | chrY:16466516-16511744 | Breakpoint 2 | chrY:16515740-16543014 |
| 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.