| Accession | HsInv0608 | Region of the inversion | chrX:154228645-154369893 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 78,882 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrX:154228645-154287398 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:154303912-154369893 |
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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:154217938-154227920 | Breakpoint 2 | chrX:154382339-154392321 | ||||||||||||||||||||
| D/C Score | -2.23 | Disc. Support Prob. | 0.00415 | ||||||||||||||||||||
| Support | 5 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chrX:154249888-154287398 | Breakpoint 2 | chrX:154303912-154350259 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.03966 | ||||||||||||||||||||
| Support | 3 probes | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chrX:154228645-154229532 | Breakpoint 2 | chrX:154368178-154369893 | ||||||||||||||||||||
| D/C Score | -2.09 | Disc. Support Prob. | 0.02385 | ||||||||||||||||||||
| Support | 13 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chrX:154228645-154287398 | Breakpoint 2 | chrX:154303912-154369893 | |||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.92 | GC content | 0.45 | Stability | 1.81 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chrX:154219196-154269570 | 50,375 | chrX:154336838-154387405 | 50,568 | 0.999 | 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:154228645-154287398 | Breakpoint 2 | chrX:154303912-154369893 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:41
| Breakpoint 1 | chrX:154228645-154229532 | Breakpoint 2 | chrX:154368178-154369893 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
