| Accession | HsInv0012 | Region of the inversion | chr1:246706970-246800981 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 51,772 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:246706970-246749190 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:246758720-246800981 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr1:246749189-246749189 | Breakpoint 2 | chr1:246758249-246758249 | ||||
| Individuals |
| ||||||
+ 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 | chr1:246706970-246749190 | Breakpoint 2 | chr1:246758720-246800981 | |||||||||||||
| Study | Vicente-Salvador et al. 2017 | |||||||||||||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and five sequenced fosmids | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
|
|||||||||||||||
| Flexibility | 10.39 | GC content | 0.5 | Stability | 1.92 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 59 kb inverted SDs with 98.6% 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
- 2016-12-09 18:59:43
| Breakpoint 1 | chr1:246706970-246749190 | Breakpoint 2 | chr1:246758720-246800981 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and five sequenced fosmids | ||
| Definition method | Manual curation | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr1:246748189-246750189 | Breakpoint 2 | chr1:246757249-246759249 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
