| Accession | HsInv0679 | Region of the inversion | chr3:175025245-175111115 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 42,936 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr3:175025245-175062072 |
| Ancestral orientation | NA | Breakpoint 2 | chr3:175062072-175111115 |
| Comments | False inversion prediction possibly caused by small inverted duplication in tandem or error during fosmid end sequencing
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- 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 | chr3:175025245-175062072 | Breakpoint 2 | chr3:175062072-175111115 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Inversion supported only by 2 fosmids with a read mapping both in plus and minus orientation in same region, with slightly higher support for concordant mapping | ||||||||||||||||||||||
+ Validation and genotyping
-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 | Fosmid sequence analysis |
| Status | False |
| Comment | Analysis of reads supporting the inversion of the two fosmids shows that both include an inverted duplication in tandem |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr3:175025245-175062072 | Breakpoint 2 | chr3:175062072-175111115 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 11.14 | GC content | 0.46 | Stability | 1.77 |
+ 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
- NLGN1
| Gene position | chr3:174598931-175483833 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:32
| Breakpoint 1 | chr3:175025245-175062072 | Breakpoint 2 | chr3:175062072-175111115 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
