| Accession | HsInv0438 | Region of the inversion | chr1:144002880-146504165 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 2,482,930 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks two genes | Breakpoint 1 | chr1:144002880-144021236 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:146485809-146504165 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- 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 | chr1:144002880-144021236 | Breakpoint 2 | chr1:146485809-146504165 | ||||||||||||||||||||
| D/C Score | -5.47 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:144002880-144021236 | Breakpoint 2 | chr1:146485809-146504165 | |||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 4.89 | GC content | 0.25 | Stability | 1.01 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:144006605-144009803 | 3,199 | chr1:146489471-146492662 | 3,192 | 0.933 | Inverted |
| chr1:144012902-144034531 | 21,630 | chr1:146471013-146492662 | 21,650 | 0.956 | 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
| Gene position | chr1:142858167-144081661 |
| Mechanism | Breaks one gene |
- NBPF10
| Gene position | chr1:146042569-146713415 |
| Mechanism | Breaks one gene |
- NBPF12
| Gene position | chr1:143304951-144081556 |
| Mechanism | Breaks one gene |
- NBPF8
| Gene position | chr1:146040946-146713553 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:47
| Breakpoint 1 | chr1:144002880-144021236 | Breakpoint 2 | chr1:146485809-146504165 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
