| Accession | HsInv0191 | Region of the inversion | chr10:75089100-75090393 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 237 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr10:75089100-75090124 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:75089303-75090393 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr10:75089631-75089631 | Breakpoint 2 | chr10:75089933-75089933 |
| Individuals | 1356 out of 2504 individuals
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| 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 | chr10:75087689-75087689 | Breakpoint 2 | chr10:75088345-75088345 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:75089428-75089724 | Breakpoint 2 | chr10:75089918-75090282 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:75089524-75089700 | Breakpoint 2 | chr10:75089793-75089903 | ||||
| Individuals |
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+ 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 CH17-77M7 BAC sequence (AC255480) obtained with the Illumina Nextera system |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr10:75089100-75090124 | Breakpoint 2 | chr10:75089303-75090393 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.33 | GC content | 0.54 | Stability | 1.94 |
+ 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
| Inversion is perfectly correlated (r2 = 0.99) in icelandic population with a SNP (rs10824026) associated with atrial fibrillation (P-value = 4.00E-09) | Kehr et al. 2017 |
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr10:75089100-75090124 | Breakpoint 2 | chr10:75089303-75090393 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr10:75089100-75090124 | Breakpoint 2 | chr10:75089303-75090393 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:03
| Breakpoint 1 | chr10:75089100-75090124 | Breakpoint 2 | chr10:75089303-75090393 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
