| Accession | HsInv1263 | Region of the inversion | chr12:68961877-68973328 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 1,453 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr12:68961877-68971875 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:68963328-68973328 |
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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 | chr12:68966875-68966875 | Breakpoint 2 | chr12:68968328-68968328 |
| 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 | chr12:68966877-68966877 | Breakpoint 2 | chr12:68968328-68968328 |
| Individuals | 427 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 A123c. 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 | Validated |
| Comment | Complex rearrangement including an inversion validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:68961877-68971875 | Breakpoint 2 | chr12:68963328-68973328 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 12.02 | GC content | 0.21 | Stability | 1.61 |
+ 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
- CNOT2
| Gene position | chr12:68923040-69035040 |
| 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 | chr12:68961877-68971875 | Breakpoint 2 | chr12:68963328-68973328 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr12:68961877-68971877 | Breakpoint 2 | chr12:68963328-68973328 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
