| Accession | HsInv1114 | Region of the inversion | chr22:22621523-22633218 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 9,696 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Breaks one gene | Breakpoint 1 | chr22:22621523-22623523 |
| Ancestral orientation | NA | Breakpoint 2 | chr22:22631218-22633218 |
| Comments | False inversion prediction caused by incorrect mapping due to a polymorphic 37-kb deletion that removes one copy of an inverted SD and sequence differences between SDs
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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 | chr22:22622523-22622523 | Breakpoint 2 | chr22:22632218-22632218 | ||||
| Individuals |
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| Comments | Inverted local mapping between HG18 and HuRef caused by polymorphic 37-kb deletion that removes one copy of an inverted SD | ||||||
- 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 | chr22:22587444-22623780 | Breakpoint 2 | chr22:22630978-22664519 | ||||||||||||||||||||
| D/C Score | -0.33 | Disc. Support Prob. | 0.00202 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Discordant PEM pattern caused by incorrect mapping of one end of all fosmids due to sequence variation within inverted SDs | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Sequence analysis indicates that inversion predictions are caused by incorrect mapping between two inverted SDs due to a polymorphic 37-kb deletion that removes the first SD copy |
-INVFEST curation
| Description | Information update by manual analysis of InvFEST curators | ||
| Method | Comparative analysis |
| Status | Breakpoint refinement |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr22:22621523-22623523 | Breakpoint 2 | chr22:22631218-22633218 | ||
| Study | INVFEST curation | ||||
| Description | Bioinformatic refinement of breakpoints after inversion split | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.93 | GC content | 0.43 | Stability | 1.87 |
+ 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
HsInv0047 split into HsInv1114 and HsInv1115
- 2016-12-12 18:00:27
| Breakpoint 1 | chr22:22587444-22623780 | Breakpoint 2 | chr22:22630978-22670844 |
| Assembly | hg18 | ||
| Description | Unrefined, Result of inversion spliting | ||
| Definition method | Default informatic definition | ||
- 2016-12-12 17:58:18
| Breakpoint 1 | chr22:22621523-22623523 | Breakpoint 2 | chr22:22631218-22633218 |
| Study | INVFEST curation | ||
| Assembly | hg18 | ||
| Description | Bioinformatic refinement of breakpoints after inversion split | ||
| Definition method | Manual curation | ||
- 2016-12-12 17:58:18
| Breakpoint 1 | chr22:22621523-22623523 | Breakpoint 2 | chr22:22631218-22633218 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Bioinformatic refinement of breakpoints after inversion split | ||
| Definition method | Manual curation | ||
