| Accession | HsInv0100 | Region of the inversion | chr4:190822808-190850111 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 27,302 bp | Supporting predictions | 7 |
| Inverted allele frequency | ND | Mechanism of origin | NHEJ or FoSTeS |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr4:190822808-190822810 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:190850109-190850111 |
| Comments | Analysis of sequences supporting the inversion suggests that they could belong to some kind of undetected paralogous 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 | chr4:190822807-190822807 | Breakpoint 2 | chr4:190850110-190850110 |
| Individuals | |||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:190822787-190823457 | Breakpoint 2 | chr4:190850110-190850851 | ||||
| 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 | chr4:190822813-190822922 | Breakpoint 2 | chr4:190850110-190850112 | ||||
| Individuals |
| ||||||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:190822561-190822952 | Breakpoint 2 | chr4:190849861-190850247 | ||||
| Individuals |
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| 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 | chr4:190822076-190822076 | Breakpoint 2 | chr4:190847392-190847392 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr4:190822584-190822584 | Breakpoint 2 | chr4:190843759-190843759 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr4:190826333-190826333 | Breakpoint 2 | chr4:190851218-190851218 | ||||||
| Individuals |
| ||||||||
+ Validation and genotyping
| 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 | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| 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 |
| Comment | Analysis of AC124864.3 BAC sequence and AC234339.3 fosmid sequence shows only partial identity with the region of the inversion, suggesting that these sequences could belong to some kind of undetected paralogous duplication |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr4:190822808-190822810 | Breakpoint 2 | chr4:190850109-190850111 | ||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||||
| Description | Breakpoints defined by comparison with a sequenced BAC and a sequenced fosmid | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NHEJ or FoSTeS
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| Flexibility | 10.31 | GC content | 0.45 | Stability | 1.87 |
| Comments |
Inversion generated by a non-homologous mechanism that could be mediated by a 3-bp microhomology within two divergent LTRs of the ERV1 family in inverted orientation |
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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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr4:190822352-190823161 | Breakpoint 2 | chr4:190849647-190850461 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr4:190822352-190823161 | Breakpoint 2 | chr4:190849647-190850461 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr4:190822352-190823161 | Breakpoint 2 | chr4:190849647-190850461 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr4:190822352-190823161 | Breakpoint 2 | chr4:190849647-190850461 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr4:190822808-190822810 | Breakpoint 2 | chr4:190850109-190850111 |
| Assembly | hg18 | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:00
| Breakpoint 1 | chr4:190822808-190822810 | Breakpoint 2 | chr4:190850109-190850111 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with a sequenced BAC and a sequenced fosmid | ||
| Definition method | Manual curation | ||
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