| Accession | HsInv0057 | Region of the inversion | chr5:178996079-179017954 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 21,181 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr5:178996079-178996671 |
| Ancestral orientation | NA | Breakpoint 2 | chr5:179017156-179017954 |
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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 | chr5:178993271-178993271 | Breakpoint 2 | chr5:179018173-179018173 | ||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr5:178997079-178997079 | Breakpoint 2 | chr5:179016954-179016954 | ||||
| Individuals |
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- 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 | chr5:178977177-178996671 | Breakpoint 2 | chr5:179017156-179030633 | ||||||||||||||||||||
| D/C Score | 3.51 | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 103 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr5:178996079-178996671 | Breakpoint 2 | chr5:179017156-179017954 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.01 | GC content | 0.49 | Stability | 2.04 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr5:178993587-179003136 | 9,550 | chr5:179010860-179018173 | 7,314 | 0.975 | 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 | chr5:178996079-178996671 | Breakpoint 2 | chr5:179017156-179017954 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:33
| Breakpoint 1 | chr5:178996079-178996671 | Breakpoint 2 | chr5:179017156-179017954 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
