| Accession | HsInv0062 | Region of the inversion | chr6:168834529-168837601 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 1,980 bp | Supporting predictions | 8 |
| Inverted allele frequency | ND | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:168834529-168835288 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr6:168836174-168837601 |
| Comments | Standard orientation is possibly a low frequency variant or HG18 assembly error
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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 | chr6:168834893-168834893 | Breakpoint 2 | chr6:168837238-168837238 | ||||
| Individuals |
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| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr6:168835119-168835189 | Breakpoint 2 | chr6:168837041-168838086 | ||||
| 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 | chr6:168834969-168835496 | Breakpoint 2 | chr6:168836643-168837154 | ||||
| Individuals |
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr6:168834149-168834149 | Breakpoint 2 | chr6:168835881-168835881 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr6:168836112-168836112 | Breakpoint 2 | chr6:168838534-168838534 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr6:168836587-168836587 | Breakpoint 2 | chr6:168838190-168838190 | ||||||
| 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 | chr6:168835529-168835529 | Breakpoint 2 | chr6:168836601-168836601 | ||||
| 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 | chr6:168803068-168835288 | Breakpoint 2 | chr6:168836174-168868134 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99997 | ||||||||||||||||||||
| Support | 6 probes  | ||||||||||||||||||||||
| 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 CH17-249J3 BAC sequence (AC255410) obtained with PacBio long reads |
| Description | Sequence analysis of structural variant breakpoints and experimental genotyping of inversions by PCR | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Comment | Inversion genotyped in 42 individuals of diverse origin (84 INV alleles) |
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||
| Method | Genome sequence comparison |
| Status | Validated |
| Comment | Inversion confirmed by comparison with the Celera Human Genome assembly |
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr6:168834529-168835288 | Breakpoint 2 | chr6:168836174-168837601 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NAHR
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| Flexibility | 11.29 | GC content | 0.41 | Stability | 1.8 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between ~670 bp inverted duplications of unique sequence with 98% identity |
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+ Evolutionary history
| Ancestral allele | Inverted | Age | ND |
| Derived allele | Standard | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Inverted | Polymerase chain reaction (PCR) | Pang et al. 2013 |
| Orangutan | Inverted | Polymerase chain reaction (PCR) | Pang et al. 2013 |
+ 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 | chr6:168834529-168835288 | Breakpoint 2 | chr6:168836174-168837601 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:34
| Breakpoint 1 | chr6:168834529-168835288 | Breakpoint 2 | chr6:168836174-168837601 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:34
| Breakpoint 1 | chr6:168834529-168835288 | Breakpoint 2 | chr6:168836174-168837601 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:34
| Breakpoint 1 | chr6:168834529-168835288 | Breakpoint 2 | chr6:168836174-168837601 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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