| Accession | HsInv0651 | Region of the inversion | chr1:143129123-147558657 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 4,356,597 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr1:143129123-143218481 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:147502139-147558657 |
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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 | chr1:143129123-143177961 | Breakpoint 2 | chr1:147502139-147550977 | ||||||||||||||||||||
| D/C Score | -0.36 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr1:143173744-143218481 | Breakpoint 2 | chr1:147510915-147558657 | ||||||||||||||||||||
| D/C Score | -0.36 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:143129123-143218481 | Breakpoint 2 | chr1:147502139-147558657 | |||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.78 | GC content | 0.4 | Stability | 1.81 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:143163102-143182782 | 19,681 | chr1:147505292-147526837 | 21,546 | 0.969 | 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
| Gene position | chr1:142858167-144081661 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:46
| Breakpoint 1 | chr1:143173744-143177961 | Breakpoint 2 | chr1:147510915-147550977 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:46
| Breakpoint 1 | chr1:143129123-143218481 | Breakpoint 2 | chr1:147502139-147558657 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
