| Accession | HsInv1064 | Region of the inversion | chr6:167548034-167618127 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 44,285 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:167548034-167575942 |
| Ancestral orientation | NA | Breakpoint 2 | chr6:167594416-167618127 |
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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 | chr6:167570611-167570746 | Breakpoint 2 | chr6:167607064-167607482 | ||||
| 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 | chr6:167548034-167575942 | Breakpoint 2 | chr6:167594416-167618127 | ||||||||||||||||||||
| D/C Score | -0.84 | Disc. Support Prob. | 0.01179 | ||||||||||||||||||||
| Individuals |
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| Comments | Probably false prediction due to incorrect mapping caused by sequence differences between SDs | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr6:167548034-167575942 | Breakpoint 2 | chr6:167594416-167618127 | |||||||||||||||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | |||||||||||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.58 | GC content | 0.37 | Stability | 1.74 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr6:167550813-167556813 | 6,001 | chr6:167617328-167623510 | 6,183 | 0.935 | Inverted |
| chr6:167569968-167571537 | 1,570 | chr6:167606484-167608064 | 1,581 | 0.938 | Inverted |
| chr6:167572376-167576018 | 3,643 | chr6:167599462-167602553 | 3,092 | 0.940 | 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
