| Accession | HsInv1115 | Region of the inversion | chr22:22632603-22653104 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 11,726 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr22:22632603-22641378 |
| Ancestral orientation | NA | Breakpoint 2 | chr22:22644328-22653104 |
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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 | chr22:22617352-22622870 | Breakpoint 2 | chr22:22659160-22670844 | ||||||||||||||||||||
| D/C Score | -3.63 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 15 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | prediction outside of the current location of the inversion breakpoints Sequence analysis indicates that most discordant PEM patterns are caused by incorrect mapping of one fosmid end due to sequence variation within inverted SDs, with the excepetion of those of NA18517, NA19129 and NA19240 | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr22:22632603-22641378 | Breakpoint 2 | chr22:22644328-22653104 | |||||||||||||
| Description | Breakpoints defined by comparison with the HuRef and CHM1 Human Genome assemblies and several sequenced fosmids and BACs | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.18 | GC content | 0.56 | Stability | 2.1 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 29.6 kb inverted SDs with 99% 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
HsInv0047 split into HsInv1114 and HsInv1115
- 2016-12-13 12:09:46
| Breakpoint 1 | chr22:22587444-22623780 | Breakpoint 2 | chr22:22630978-22670844 |
| Assembly | hg18 | ||
| Description | Unrefined, Result of inversion spliting | ||
| Definition method | Default informatic definition | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr22:22632603-22641378 | Breakpoint 2 | chr22:22644328-22653104 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the HuRef and CHM1 Human Genome assemblies and several sequenced fosmids and BACs | ||
| Definition method | Manual curation | ||
