| Accession | HsInv1425 | Region of the inversion | chr2:133230260-133241105 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,188 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 | chr2:133230260-133239769 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:133231298-133241105 |
| Comments | False inversion prediction caused by an inverted duplication
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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 | chr2:133234769-133234769 | Breakpoint 2 | chr2:133236105-133236105 |
| 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 | chr2:133235260-133235260 | Breakpoint 2 | chr2:133236298-133236298 |
| Individuals | 22 out of 2504 individuals
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+ 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 A15a. 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 long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:133230260-133239769 | Breakpoint 2 | chr2:133231298-133241105 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 11.02 | GC content | 0.4 | Stability | 1.84 |
+ 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
- NCKAP5
| Gene position | chr2:133145841-134042501 |
| 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 | chr2:133230260-133239769 | Breakpoint 2 | chr2:133231298-133241105 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:133230260-133240260 | Breakpoint 2 | chr2:133231298-133241298 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
