| Accession | HsInv0102 | Region of the inversion | chr4:39911422-39913455 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 2,033 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | NHEJ |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr4:39911422-39911423 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:39913454-39913455 |
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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 | chr4:39911421-39911421 | Breakpoint 2 | chr4:39913454-39913454 |
| 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 | chr4:39911443-39911443 | Breakpoint 2 | chr4:39913434-39913434 |
| Individuals | 776 out of 2504 individuals
 | ||
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr4:39908899-39908899 | Breakpoint 2 | chr4:39913335-39913335 | ||||||
| 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 | chr4:39879552-39911460 | Breakpoint 2 | chr4:39912971-39956494 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.84975 | ||||||||||||||||||||
| 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 | Inconclusive |
| Comment | Tested in sample A178d. 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 | Simple inversion validated by sequence analysis of PacBio long reads from fosmids |
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
-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 | Sequence analysis |
| Status | Breakpoint refinement |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr4:39911422-39911423 | Breakpoint 2 | chr4:39913454-39913455 | ||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||||
| Description | Breakpoints defined by comparison with split reverse read of one fosmid | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NHEJ
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| Flexibility | 10.45 | GC content | 0.38 | Stability | 1.82 |
| Comments |
Inversion generated probably by non-homologous end joining (NHEJ) mediated by AT microhomology |
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+ 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
- RHOH
| Gene position | chr4:39870981-39922779 |
| 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 | chr4:39906443-39911460 | Breakpoint 2 | chr4:39912971-39918434 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr4:39906443-39911460 | Breakpoint 2 | chr4:39912971-39918434 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:32
| Breakpoint 1 | chr4:39902089-39911460 | Breakpoint 2 | chr4:39912971-39920145 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:32
| Breakpoint 1 | chr4:39911422-39911423 | Breakpoint 2 | chr4:39913454-39913455 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with split reverse read of one fosmid | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona
Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.