| Accession | HsInv0200 | Region of the inversion | chr14:92990759-93001061 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 310 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 | chr14:92990759-93000759 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:92991075-93001061 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr14:92995759-92995759 | Breakpoint 2 | chr14:92996061-92996061 | ||||
| Individuals |
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| 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 | chr14:92995684-92996034 | Breakpoint 2 | chr14:92996158-92996636 | ||||
| Individuals |
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+ Validation and genotyping
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||
| Method | Sequence analysis |
| Status | Validated |
| Comment | Inversion validated by analysis of CH17-269J10 BAC sequence (AC255467) obtained with the Illumina Nextera system |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:92990759-93000759 | Breakpoint 2 | chr14:92991075-93001061 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.37 | GC content | 0.33 | Stability | 1.75 |
+ 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
- UNC79
| Gene position | chr14:92869317-93243442 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr14:92990759-93000759 | Breakpoint 2 | chr14:92991075-93001061 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr14:92990473-93001245 | Breakpoint 2 | chr14:92991075-93001719 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
