| Accession | HsInv0239 | Region of the inversion | chr1:146218975-146242770 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 22,959 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr1:146218975-146219655 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:146241775-146242770 |
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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 a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:146219055-146219575 | Breakpoint 2 | chr1:146242170-146242375 | ||||
| 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 | chr1:146198967-146221695 | Breakpoint 2 | chr1:146240043-146258418 | ||||||||||||||||||||
| D/C Score | -4.22 | Disc. Support Prob. | 0.0002 | ||||||||||||||||||||
| Support | 11 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:146218975-146219655 | Breakpoint 2 | chr1:146241775-146242770 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.16 | GC content | 0.5 | Stability | 2.02 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:146216855-146227212 | 10,358 | chr1:146234439-146245065 | 10,627 | 0.971 | Inverted |
+ 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
+ Report history
- 2015-02-23 10:14:47
| Breakpoint 1 | chr1:146218975-146219655 | Breakpoint 2 | chr1:146241775-146242770 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
