| Accession | HsInv0024 | Region of the inversion | chr12:79369385-79382831 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 11,837 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr12:79369385-79370687 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:79380912-79382831 |
| Comments | Standard orientation is possibly a low frequency variant or HG18 assembly error
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:79366302-79366302 | Breakpoint 2 | chr12:79385912-79385912 | ||||
| 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 | chr12:79372951-79372951 | Breakpoint 2 | chr12:79383143-79383143 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:79370385-79370385 | Breakpoint 2 | chr12:79381831-79381831 | ||||
| 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 | chr12:79346912-79370687 | Breakpoint 2 | chr12:79380896-79409608 | ||||||||||||||||||||
| D/C Score | 0.59 | Disc. Support Prob. | 0.99719 | ||||||||||||||||||||
| Support | 35 probes  | ||||||||||||||||||||||
| Individuals |
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+ 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 | Polymerase chain reaction (PCR) |
| Status | Validated |
| Method | Genome sequence comparison |
| Status | Validated |
| Comment | Inversion confirmed by comparison with the Celera Human Genome assembly |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:79369385-79370687 | Breakpoint 2 | chr12:79380912-79382831 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.29 | GC content | 0.42 | Stability | 1.86 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between inverted L1PA3 elements with 97% identity |
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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
- PTPRQ
| Gene position | chr12:79362256-79598099 |
| 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 | chr12:79369385-79370687 | Breakpoint 2 | chr12:79380912-79382831 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:79369385-79370687 | Breakpoint 2 | chr12:79380896-79382831 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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.