| Accession | HsInv1121 | Region of the inversion | chr21:40293987-40351121 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 24,261 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr21:40293987-40327724 |
| Ancestral orientation | NA | Breakpoint 2 | chr21:40319111-40351121 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr21:40320914-40320914 | Breakpoint 2 | chr21:40325921-40325921 | ||||||
| Individuals |
| ||||||||
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr21:40321769-40321769 | Breakpoint 2 | chr21:40331695-40331695 | ||||
| Individuals |
| ||||||
- 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 | chr21:40293987-40318374 | Breakpoint 2 | chr21:40332399-40351121 | ||||||||||||||||||||
| D/C Score | 1.08 | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 64 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr21:40293987-40327724 | Breakpoint 2 | chr21:40319111-40351121 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 10.38 | GC content | 0.45 | Stability | 1.92 |
+ 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
- DSCAM
| Gene position | chr21:40306212-41140909 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
