| Accession | HsInv1067 | Region of the inversion | chr4:190821196-190849556 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 24,604 bp | Supporting predictions | 7 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr4:190821196-190824383 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:190845229-190849556 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr4:190822807-190822807 | Breakpoint 2 | chr4:190850110-190850110 |
| Individuals | |||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:190822125-190823454 | Breakpoint 2 | chr4:190845229-190849556 | ||||
| Individuals |
| ||||||
| Name | |||||||
| Breakpoint 1 | chr4:190822787-190823457 | Breakpoint 2 | chr4:190850110-190850851 | ||||
| Individuals |
| ||||||
| 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 | chr4:190822813-190822922 | Breakpoint 2 | chr4:190850110-190850112 | ||||
| Individuals |
| ||||||
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr4:190822076-190822076 | Breakpoint 2 | chr4:190847392-190847392 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr4:190822584-190822584 | Breakpoint 2 | chr4:190843759-190843759 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr4:190826333-190826333 | Breakpoint 2 | chr4:190851218-190851218 | ||||||
| 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 | chr4:190821196-190824383 | Breakpoint 2 | chr4:190845229-190849556 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 10.89 | GC content | 0.39 | Stability | 1.74 |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr4:190821196-190824383 | Breakpoint 2 | chr4:190845229-190849556 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:28
| Breakpoint 1 | chr4:190821196-190824383 | Breakpoint 2 | chr4:190845229-190849556 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
