| Accession | HsInv0778 | Region of the inversion | chr15:28486453-28638778 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 142,326 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr15:28486453-28496453 |
| Ancestral orientation | NA | Breakpoint 2 | chr15:28628778-28638778 |
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Human Polymorphic Inversion DataBase
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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 | chr15:28491453-28491453 | Breakpoint 2 | chr15:28633778-28633778 | ||||
| Individuals |
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| Comments | Inversion actually detected by sequence analysis of CHM1 BAC sequences (no long-read sequencing) | ||||||
- 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 | chr15:28461703-28487230 | Breakpoint 2 | chr15:28628515-28654042 | ||||||||||||||||||||
| D/C Score | -3.33 | Disc. Support Prob. | 0.00006 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| 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 | Sequence analysis |
| Status | Validated |
| Comment | Inversion validated by analysis of available CHM1 BAC sequences |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr15:28486453-28496453 | Breakpoint 2 | chr15:28628778-28638778 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.09 | GC content | 0.49 | Stability | 1.93 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr15:28457302-28515943 | 58,642 | chr15:28609299-28667964 | 58,666 | 0.997 | Inverted |
+ 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 | chr15:28486453-28496453 | Breakpoint 2 | chr15:28628778-28638778 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:28
| Breakpoint 1 | chr15:28461703-28487230 | Breakpoint 2 | chr15:28628515-28654042 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
