| Accession | HsInv1110 | Region of the inversion | chr21:14087590-14538009 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 440,420 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr21:14087590-14097590 |
| Ancestral orientation | NA | Breakpoint 2 | chr21:14528009-14538009 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||||||
| Method | Long-read sequencing | ||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr21:14092590-14092590 | Breakpoint 2 | chr21:14533009-14533009 | ||||
| Individuals |
| ||||||
| Comments | Inversion actually detected by discordant mapping of CHM1 BAC end sequences (no long-read sequencing) | ||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr21:14087590-14097590 | Breakpoint 2 | chr21:14528009-14538009 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 10.69 | GC content | 0.38 | Stability | 1.81 |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr21:14087590-14097590 | Breakpoint 2 | chr21:14528009-14538009 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
