| Accession | HsInv1667 | Region of the inversion | chr7:31548558-31561734 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 4,216 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an exon of a gene | Breakpoint 1 | chr7:31548558-31558290 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:31553544-31561734 |
| 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 | chr7:31553558-31553558 | Breakpoint 2 | chr7:31556734-31556734 |
| 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 | chr7:31553290-31553290 | Breakpoint 2 | chr7:31558544-31558544 |
| Individuals | 796 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 | Validated |
| Comment | Tested in sample A105c |
| 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 Oxford Nanopore Minion long reads from long-range PCR amplicons, PacBio long reads from CHM1 genome |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr7:31548558-31558290 | Breakpoint 2 | chr7:31553544-31561734 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.86 | GC content | 0.47 | Stability | 1.88 |
+ 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
- CCDC129
| Gene position | chr7:31520209-31659828 |
| 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 | chr7:31548558-31558290 | Breakpoint 2 | chr7:31553544-31561734 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr7:31548290-31558290 | Breakpoint 2 | chr7:31553544-31563544 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
