| Accession | HsInv1422 | Region of the inversion | chr2:124763358-124774419 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,313 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr2:124763358-124773171 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:124764735-124774419 |
| Comments | False inversion prediction caused by an inverted duplication
|
||
|
|
 |
|
|
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 | chr2:124768358-124768358 | Breakpoint 2 | chr2:124769419-124769419 |
| Individuals | |||
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr2:124768171-124768171 | Breakpoint 2 | chr2:124769735-124769735 |
| Individuals | 1458 out of 2504 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 | Inconclusive |
| Comment | Tested in sample A168b. PCR assay failed. |
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Inverted duplication validated by sequence analysis of PacBio long reads from fosmids, PacBio long reads from CHM1 genome |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:124763358-124773171 | Breakpoint 2 | chr2:124764735-124774419 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 11.11 | GC content | 0.36 | Stability | 1.77 |
+ 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
- CNTNAP5
| Gene position | chr2:124499333-125389424 |
| 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 | chr2:124763358-124773171 | Breakpoint 2 | chr2:124764735-124774419 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:124763171-124773171 | Breakpoint 2 | chr2:124764735-124774735 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
