| Accession | HsInv0063 | Region of the inversion | chr7:70064121-70076823 |
| Status | Obsolete | Prediction type | Simple |
| Estimated Inversion Size | 12,699 bp | Supporting predictions | 4 |
| Inverted allele frequency | 0.5385 | Mechanism of origin | NHEJ of clean and 7 bp staggered breaks |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:70064121-70064122 |
| Ancestral orientation | Standard | Breakpoint 2 | chr7:70076816-70076823 |
| Comments | 5216 bp adjacent to BP1 are deleted in HuRef ; 2 seq. Fs with same exact BPs (apparently Del & Inv always associated.)
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr7:70064132-70064343 | Breakpoint 2 | chr7:70076854-70077069 | ||||
| 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 | chr7:70064121-70064121 | Breakpoint 2 | chr7:70076815-70076815 | ||||
| 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 | chr7:70032007-70064629 | Breakpoint 2 | chr7:70076139-70106476 | ||||||||||||||||||||
| D/C Score | 0.75 | Disc. Support Prob. | 0.02333 | ||||||||||||||||||||
| Support | 20 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr7:70031528-70066512 | Breakpoint 2 | chr7:70076380-70104763 | ||||||||||||||||||||
| D/C Score | 0.26 | Disc. Support Prob. | 0.71097 | ||||||||||||||||||||
| Support | 24 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Genotyping | 13 individuals: 8 HapMap/1000GP, 3 Other, 2 unknown 4 STD/STD - 4 STD/INV - 5 INV/INV |
| Comment | Polymorphic inversion |
- Frequency
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+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
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Yoruba in Ibadan, Nigeria (YRI) (Vicente-Salvador et al. 2017) | 4 | 0 | 1.0000 | 0.0000 | NA |
| Africa (AFR)
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Africa (AFR) summary | 4 | 0 | 1.0000 | 0.0000 | NA |
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+ Europe (EUR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Northwestern European
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Utah residents with Northern and Western European ancestry (CEU) (Vicente-Salvador et al. 2017) | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
| Europe (EUR)
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Europe (EUR) summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
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+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
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Han Chinese in Beijing, China (CHB) (Vicente-Salvador et al. 2017) | 1 | 2 | 0.0000 | 1.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Vicente-Salvador et al. 2017) | 1 | 2 | 0.0000 | 1.0000 | NA |
| East Asia (EAS)
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East Asia (EAS) summary | 2 | 4 | 0.0000 | 1.0000 | NA |
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
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Unknown (Vicente-Salvador et al. 2017) | 5 | 7 | 0.3000 | 0.7000 | > 0.3 |
| Unknown
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Unknown summary | 5 | 7 | 0.3000 | 0.7000 | > 0.3 |
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+ Breakpoints
| Breakpoint 1 | chr7:70064121-70064122 | Breakpoint 2 | chr7:70076816-70076823 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NHEJ of clean and 7 bp staggered breaks
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| Flexibility | 9.81 | GC content | 0.37 | Stability | 1.89 |
+ Evolutionary history
| Ancestral allele | Standard | Age | ND |
| Derived allele | Inverted | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Standard | INVFEST curation | |
| Rhesus macaque | Standard | INVFEST curation |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
HsInv0166 and HsInv0063 merge into HsInv1052
- 2015-02-23 10:15:10
| Breakpoint 1 | chr7:70063743-70064732 | Breakpoint 2 | chr7:70076469-70077454 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:10
| Breakpoint 1 | chr7:70064121-70064122 | Breakpoint 2 | chr7:70076816-70076823 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Hospital del Mar Research Institute
Contact us at invfestdb@researchmar.net
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