| Accession | HsInv0749 | Region of the inversion | chr5:147534039-147535584 |
| Status | Obsolete | Prediction type | Simple |
| Estimated Inversion Size | 555 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 | chr5:147534039-147535027 |
| Ancestral orientation | NA | Breakpoint 2 | chr5:147534590-147535584 |
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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 an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr5:147533908-147534427 | Breakpoint 2 | chr5:147534807-147535132 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr5:147534427-147534639 | Breakpoint 2 | chr5:147534984-147535190 | ||||
| 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 | chr5:147493556-147534433 | Breakpoint 2 | chr5:147534773-147575793 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99918 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr5:147534039-147535027 | Breakpoint 2 | chr5:147534590-147535584 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.45 | GC content | 0.31 | Stability | 1.69 |
+ 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
- SPINK14
| Gene position | chr5:147529488-147535154 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
