| Accession | HsInv0786 | Region of the inversion | chr16:28256774-28695952 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 305,235 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:28256774-28390714 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:28562003-28695952 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Characterization of chromosome 16 segmental duplications and several large-scale structural polymorphisms | ||||||||||
| Method | Chromosome-specific assembly | ||||||||||
| Name | |||
| Breakpoint 1 | chr16:28256775-28390714 | Breakpoint 2 | chr16:28562004-28695952 |
| Individuals | |||
- 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 | chr16:28247570-28262329 | Breakpoint 2 | chr16:28564290-28580749 | ||||||||||||||||||||
| D/C Score | -4.94 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Characterization of chromosome 16 segmental duplications and several large-scale structural polymorphisms | ||
| Method | Chromosome-specific assembly |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr16:28256774-28390714 | Breakpoint 2 | chr16:28562003-28695952 | |||||||||||||
| Study | Martin et al. 2004 | |||||||||||||||
| Description | Breakpoints defined by comparison with alternative chromosome-specific assembly | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.97 | GC content | 0.4 | Stability | 1.93 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 134 kb inverted SDs with almost 100% identity |
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Sequence features |
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Segmental duplications:
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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
- 2015-03-12 09:05:07
| Breakpoint 1 | chr16:28256774-28390714 | Breakpoint 2 | chr16:28562003-28695952 |
| Study | Martin et al. 2004 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with alternative chromosome-specific assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:29
| Breakpoint 1 | chr16:28247570-28262329 | Breakpoint 2 | chr16:28564290-28580749 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
