| Accession | HsInv0428 | Region of the inversion | chr1:246715485-246797215 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 79,461 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:246715485-246719487 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:246796677-246797215 |
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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 | chr1:246715485-246719487 | Breakpoint 2 | chr1:246796677-246797215 | ||||||||||||||||||||
| D/C Score | -6.84 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 18 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 | chr1:246715485-246719487 | Breakpoint 2 | chr1:246796677-246797215 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 12 | GC content | 0.23 | Stability | 1.7 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:246689711-246749190 | 59,480 | chr1:246758720-246818330 | 59,611 | 0.988 | 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 10:14:42
| Breakpoint 1 | chr1:246715485-246719487 | Breakpoint 2 | chr1:246796677-246797215 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
