| Accession | HsInv0152 | Region of the inversion | chr16:21500310-22619613 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,116,424 bp | Supporting predictions | 6 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:21500310-21504201 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:22617744-22619613 |
| Comments | False inversion prediction caused by HG18 assembly error. Two haplotypes (S1 and S2) have been detected in this region that differ by 333 kb of additional duplicated sequence present in S2 but not in S1. Worldwide frequencies in humans are 17.6% for S1 and 82.4% for S2. The S2 configuration predisposes to a disease-associated deletion.
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr16:21501948-21501948 | Breakpoint 2 | chr16:22618256-22618256 |
| Individuals | |||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr16:21501943-21502568 | Breakpoint 2 | chr16:22618252-22620002 | ||||
| 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 | chr16:21500239-21500239 | Breakpoint 2 | chr16:22615829-22615829 | ||||||
| Individuals |
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| Name | |||||||||
| Breakpoint 1 | chr16:21501512-21501512 | Breakpoint 2 | chr16:22612803-22612803 | ||||||
| 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 | chr16:21282525-21319967 | Breakpoint 2 | chr16:22453662-22496416 | ||||||||||||||||||||
| D/C Score | -1.67 | Disc. Support Prob. | 0.00028 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr16:21501398-21513318 | Breakpoint 2 | chr16:22617551-22625211 | ||||||||||||||||||||
| D/C Score | -3.24 | Disc. Support Prob. | 0.75742 | ||||||||||||||||||||
| Support | 89 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Comment | Tested in sample A105c |
| Description | Detailed analysis of 16p12.1 region invalidates a putative inversion and uncovers two distinc haplotypes that differ by 333 kb of additional duplicated sequence | ||||||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | False |
| Method | Chromosome-specific assembly |
| Status | False |
| Method | Optical mapping |
| Status | False |
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Genotyping | 8 individuals (No genotypes available) |
| Comment | Inversion was identified as homozygous in J. C. Venter and in 7 HapMap samples from four populations |
- Frequency
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown | Unknown (Pang et al. 2010) | 8 | 16 | 0.0000 | 1.0000 | NA |
| Unknown | Unknown summary | 8 | 16 | 0.0000 | 1.0000 | NA |
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+ Breakpoints
| Breakpoint 1 | chr16:21500310-21504201 | Breakpoint 2 | chr16:22617744-22619613 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.65 | GC content | 0.52 | Stability | 2.08 |
+ 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 | chr16:21500310-21504201 | Breakpoint 2 | chr16:22617744-22619613 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:39
| Breakpoint 1 | chr16:21501398-21504201 | Breakpoint 2 | chr16:22617744-22619613 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:39
| Breakpoint 1 | chr16:21501398-21504201 | Breakpoint 2 | chr16:22617744-22619613 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:39
| Breakpoint 1 | chr16:21501398-21507049 | Breakpoint 2 | chr16:22617551-22619613 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.