| Accession | HsInv0046 | Region of the inversion | chr21:40320769-40332695 |
| Status | Obsolete | Prediction type | Simple |
| Estimated Inversion Size | 9,927 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr21:40320769-40322769 |
| Ancestral orientation | NA | Breakpoint 2 | chr21:40330695-40332695 |
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Human Polymorphic Inversion DataBase
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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 |
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| 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 |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr21:40320769-40322769 | Breakpoint 2 | chr21:40330695-40332695 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.17 | GC content | 0.4 | Stability | 1.81 |
+ 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
