| Accession | HsInv0086 | Region of the inversion | chrX:149321178-149336950 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 14,418 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 | chrX:149321178-149322566 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:149335628-149336950 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chrX:149322178-149322178 | Breakpoint 2 | chrX:149335950-149335950 | ||||
| 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 | chrX:149298669-149322566 | Breakpoint 2 | chrX:149335628-149355148 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 56 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chrX:149321178-149322566 | Breakpoint 2 | chrX:149335628-149336950 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 12.11 | GC content | 0.47 | 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
- MAMLD1
| Gene position | chrX:149282208-149433106 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:38
| Breakpoint 1 | chrX:149321178-149322566 | Breakpoint 2 | chrX:149335628-149336950 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
