| Accession | HsInv1857 | Region of the inversion | chr12:76903019-76916974 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 3,956 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an exon of a gene | Breakpoint 1 | chr12:76903019-76913019 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:76906974-76916974 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr12:76908019-76908019 | Breakpoint 2 | chr12:76911974-76911974 |
| Individuals | |||
+ Validation and genotyping
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Comment | Tested in sample A105c |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:76903019-76913019 | Breakpoint 2 | chr12:76906974-76916974 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.59 | GC content | 0.37 | Stability | 1.79 |
+ 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
- NAV3
| Gene position | chr12:76749199-77130921 |
| Mechanism | Inverts a region within an exon of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr12:76903019-76913019 | Breakpoint 2 | chr12:76906974-76916974 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
