| Accession | HsInv0170 | Region of the inversion | chr12:69818949-69820382 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 996 bp | Supporting predictions | 5 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr12:69818949-69819061 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:69819618-69820382 |
| 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 | chr12:69819546-69819546 | Breakpoint 2 | chr12:69820022-69820022 |
| 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 | chr12:69819051-69819051 | Breakpoint 2 | chr12:69820083-69820083 |
| Individuals | 1349 out of 2504 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 | chr12:69819035-69819051 | Breakpoint 2 | chr12:69820145-69820155 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:69819138-69819549 | Breakpoint 2 | chr12:69819782-69820218 | ||||
| Individuals |
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- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr12:69783781-69819061 | Breakpoint 2 | chr12:69819127-69866480 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99999 | ||||||||||||||||||||
| Support | 2 probes | ||||||||||||||||||||||
| 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 PacBio long reads from fosmids, PacBio long reads from CHM1 genome |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:69818949-69819061 | Breakpoint 2 | chr12:69819618-69820382 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 11.32 | GC content | 0.28 | Stability | 1.73 |
+ 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
- TSPAN8
| Gene position | chr12:69805143-69838046 |
| 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 | chr12:69818949-69819061 | Breakpoint 2 | chr12:69819618-69820382 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr12:69818949-69819061 | Breakpoint 2 | chr12:69819618-69820382 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:69818949-69819061 | Breakpoint 2 | chr12:69819618-69820382 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
