| Accession | HsInv0443 | Region of the inversion | chr1:21626430-21679537 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 52,085 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr1:21626430-21627490 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:21678551-21679537 |
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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 | chr1:21626890-21627030 | Breakpoint 2 | chr1:21678937-21679151 | ||||
| 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 | chr1:21621976-21641329 | Breakpoint 2 | chr1:21647139-21690553 | ||||||||||||||||||||
| D/C Score | -0.65 | Disc. Support Prob. | 0.30337 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr1:21573395-21621974 | Breakpoint 2 | chr1:21672879-21722042 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:21626430-21627490 | Breakpoint 2 | chr1:21678551-21679537 | |||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.6 | GC content | 0.39 | Stability | 1.82 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:21620508-21627073 | 6,566 | chr1:21679094-21685662 | 6,569 | 0.991 | Inverted |
+ 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
- NBPF3
| Gene position | chr1:21639169-21683980 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:38
| Breakpoint 1 | chr1:21626430-21627490 | Breakpoint 2 | chr1:21678551-21679537 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:38
| Breakpoint 1 | chr1:21573395-21627490 | Breakpoint 2 | chr1:21678551-21679537 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
