| Accession | HsInv0475 | Region of the inversion | chr5:17573891-17683647 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 65,161 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr5:17573891-17618279 |
| Ancestral orientation | NA | Breakpoint 2 | chr5:17638842-17683647 |
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Human Polymorphic Inversion DataBase
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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 | chr5:17580624-17604279 | Breakpoint 2 | chr5:17638842-17647225 | ||||||||||||||||||||
| D/C Score | -1.49 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 17 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr5:17573891-17618279 | Breakpoint 2 | chr5:17639261-17683647 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr5:17573891-17618279 | Breakpoint 2 | chr5:17638842-17683647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.35 | GC content | 0.36 | Stability | 1.71 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr5:17573554-17576860 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.941 | Direct |
| chr5:17576988-17580294 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.942 | Direct |
| chr5:17580422-17583093 | 2,672 | chr5:17663548-17666203 | 2,656 | 0.942 | Direct |
| chr5:17583652-17584749 | 1,098 | chr5:17663548-17664636 | 1,089 | 0.915 | Inverted |
| chr5:17584877-17588183 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.942 | Inverted |
| chr5:17588311-17591617 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.941 | Inverted |
| chr5:17591745-17595051 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.941 | Inverted |
| chr5:17595179-17598485 | 3,307 | chr5:17663548-17666838 | 3,291 | 0.942 | Inverted |
| chr5:17598613-17600000 | 1,388 | chr5:17665458-17666838 | 1,381 | 0.944 | Inverted |
| chr5:17601600-17622203 | 20,604 | chr5:17622204-17642806 | 20,603 | 0.995 | Direct |
| chr5:17602326-17608785 | 6,460 | chr5:17663550-17668921 | 5,372 | 0.922 | Inverted |
| chr5:17612628-17619089 | 6,462 | chr5:17663548-17668921 | 5,374 | 0.922 | 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
- 2015-02-23 10:14:55
| Breakpoint 1 | chr5:17573891-17618279 | Breakpoint 2 | chr5:17638842-17683647 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:55
| Breakpoint 1 | chr5:17580624-17604279 | Breakpoint 2 | chr5:17639261-17647225 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
