| Accession | HsInv0549 | Region of the inversion | chr15:20646359-26896735 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 5,817,845 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.0455 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr15:20646359-21171352 |
| Ancestral orientation | NA | Breakpoint 2 | chr15:26556665-26896735 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Detection of an inversion in mothers of Angelman syndrome patients carrying a deletion in 15q11-q13 | ||||||||||||||
| Method | Fluorescence in situ hybridization (FISH) | ||||||||||||||
| Name | |||
| Breakpoint 1 | chr15:20646359-21171352 | Breakpoint 2 | chr15:26556665-26896735 |
| Individuals | |||
| Comments | Breakpoints defined by INVFEST to include all pairs of inverted segmental duplications located at both predicted breakpoint regions | ||
- 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 | chr15:20789004-20830640 | Breakpoint 2 | chr15:26740768-26781154 | ||||||||||||||||||||
| D/C Score | -1.07 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Detection of an inversion in mothers of Angelman syndrome patients carrying a deletion in 15q11-q13 | ||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Genotyping | 44 individuals (No genotypes available) |
| Comment | Inversion was detected in 4 of 44 individuals of the general population |
-INVFEST curation
| Description | Information update by manual analysis of InvFEST curators | ||
| Method | Sequence analysis |
| Status | Breakpoint refinement |
- Frequency
|
|
+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown | Unknown (Gimelli et al. 2003) | 44 | 4 | 0.9545 | 0.0455 | NA |
| Unknown | Unknown summary | 44 | 4 | 0.9545 | 0.0455 | NA |
|---|
+ Breakpoints
| Breakpoint 1 | chr15:20646359-21171352 | Breakpoint 2 | chr15:26556665-26896735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Study | INVFEST curation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Description | Breakpoints defined by InvFEST curators as the largest blocks of inverted segmental duplications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Definition method | Manual curation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mechanism of origin |
NAHR
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Flexibility | 10.97 | GC content | 0.4 | Stability | 1.82 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between large blocks of inverted SDs with high identity |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Sequence features |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental duplications:
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
+ 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
- 2015-02-23 10:14:49
| Breakpoint 1 | chr15:20646359-21171352 | Breakpoint 2 | chr15:26556665-26896735 |
| Study | INVFEST curation | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by InvFEST curators as the largest blocks of inverted segmental duplications | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:49
| Breakpoint 1 | chr15:20789004-20830640 | Breakpoint 2 | chr15:26740768-26781154 |
| 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.