| Accession | HsInv0044 | Region of the inversion | chr21:26296023-26296577 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 549 bp | Supporting predictions | 8 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr21:26296023-26296029 |
| Ancestral orientation | NA | Breakpoint 2 | chr21:26296571-26296577 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr21:26296036-26296036 | Breakpoint 2 | chr21:26296535-26296535 |
| Individuals | |||
| 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 | chr21:26295966-26295966 | Breakpoint 2 | chr21:26296617-26296617 |
| Individuals | 2496 out of 2504 individuals
 | ||
| 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 | chr21:26296029-26296029 | Breakpoint 2 | chr21:26296577-26296577 | ||||
| Individuals |
| ||||||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr21:26295263-26296022 | Breakpoint 2 | chr21:26296577-26298280 | ||||
| Individuals |
| ||||||
| 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 | chr21:26295839-26296033 | Breakpoint 2 | chr21:26296576-26296662 | ||||
| Individuals |
| ||||||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr21:26295805-26296288 | Breakpoint 2 | chr21:26296371-26296817 | ||||
| Individuals |
| ||||||
| Description | Next-generation sequencing and analysis by paired-end mapping of a male Han Chinese individual genome | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr21:26296018-26296018 | Breakpoint 2 | chr21:26296673-26296673 |
| Individuals | |||
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr21:26296029-26296029 | Breakpoint 2 | chr21:26296570-26296570 | ||||
| Individuals |
| ||||||
+ 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 | 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 CH17-480C10 BAC sequence (AC255513) obtained with the Illumina Nextera system |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr21:26296023-26296029 | Breakpoint 2 | chr21:26296571-26296577 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 10.84 | GC content | 0.46 | Stability | 1.88 |
+ 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
- APP
| Gene position | chr21:26174731-26465009 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-29 00:00:00
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr21:26296023-26296029 | Breakpoint 2 | chr21:26296571-26296577 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:01
| Breakpoint 1 | chr21:26295688-26296405 | Breakpoint 2 | chr21:26296217-26296971 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
