| Accession | HsInv0553 | Region of the inversion | chr16:34248297-34621907 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 358,937 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:34248297-34265257 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:34609518-34621907 |
| Comments | False inversion prediction caused by a ~300-kb inverted duplication in tandem (responsible also of HsInv0782)
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr16:34248297-34265257 | Breakpoint 2 | chr16:34609518-34621907 | ||||||||||||||||||||
| D/C Score | -0.65 | Disc. Support Prob. | 0.05428 | ||||||||||||||||||||
| Support | 13 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
| Description | High-resolution Single-molecule analysis of human genome structure by optical mapping | ||||
| Method | Optical mapping |
| Status | False |
| Comment | Optical mapping indicates that this region includes a ~300 kb inverted duplication in tandem |
-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 | Fosmid sequence analysis |
| Status | False |
| Comment | Sequence analysis of AC231272.3 and fosmid end reads indicates that observed paired-end mapping is compatible with the left end of a ~300 kb inverted duplication in individuals NA15510 and NA12878 |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr16:34248297-34265257 | Breakpoint 2 | chr16:34609518-34621907 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 10.74 | GC content | 0.38 | Stability | 1.9 |
+ 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
- 2015-02-23 10:14:43
| Breakpoint 1 | chr16:34248297-34265257 | Breakpoint 2 | chr16:34609518-34621907 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
