| Accession | HsInv1126 | Region of the inversion | chrX:51427800-51485052 |
| Status | Predicted | Prediction type | Complex |
| Estimated Inversion Size | 32,327 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrX:51427800-51452741 |
| Ancestral orientation | NA | Breakpoint 2 | chrX:51460141-51485052 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chrX:51456609-51456609 | Breakpoint 2 | chrX:51460366-51460366 | ||||
| Individuals |
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| Comments | prediction outside of the current location of the inversion breakpoints | ||||||
- 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 | chrX:51422445-51446040 | Breakpoint 2 | chrX:51463204-51493352 | ||||||||||||||||||||
| D/C Score | -0.41 | Disc. Support Prob. | 0.97227 | ||||||||||||||||||||
| Support | 28 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||
| Method | Sequence analysis |
| Status | Breakpoint refinement |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chrX:51427800-51452741 | Breakpoint 2 | chrX:51460141-51485052 | |||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||
| Description | Breakpoints defined by comparison with the updated GRCh38 Human Reference assembly, the HuRef Human Genome assembly and several sequenced fosmids and BACs | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 12.34 | GC content | 0.37 | Stability | 1.74 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 25.4-25.7 kb inverted SDs with 99.7% 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
HsInv0391 and HsInv0076 merge into HsInv1126
- 2018-11-07 17:09:57
| Breakpoint 1 | chrX:51427800-51452741 | Breakpoint 2 | chrX:51460141-51485052 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the updated GRCh38 Human Reference assembly, the HuRef Human Genome assembly and several sequenced fosmids and BACs | ||
| Definition method | Manual curation | ||
- 2016-11-28 17:24:16
| Breakpoint 1 | chrX:51422445-51457609 | Breakpoint 2 | chrX:51459366-51493352 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
