| Accession | HsInv0599 | Region of the inversion | chrX:48111914-48167474 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 44,724 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrX:48111914-48123781 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:48157668-48167474 |
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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:48122720-48123781 | Breakpoint 2 | chrX:48165725-48167474 | ||||||||||||||||||||
| D/C Score | -4.7 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 16 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 | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chrX:48111914-48113852 | Breakpoint 2 | chrX:48157668-48162714 | ||||||||||||||||||||
| D/C Score | -4.88 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 17 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 | chrX:48111914-48123781 | Breakpoint 2 | chrX:48157668-48167474 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.63 | GC content | 0.42 | Stability | 1.82 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chrX:48108877-48140700 | 31,824 | chrX:48143497-48175308 | 31,812 | 0.992 | 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:41
| Breakpoint 1 | chrX:48111914-48123781 | Breakpoint 2 | chrX:48157668-48167474 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
