| Accession | HsInv0229 | Region of the inversion | chr1:225722441-225789475 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 39,307 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:225722441-225747917 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:225759495-225789475 |
| Comments | False inversion prediction possibly caused by incorrect paired-end mapping due to a region of sequence variation within SDs
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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 | chr1:225722441-225747917 | Breakpoint 2 | chr1:225759495-225789475 | ||||||||||||||||||||
| D/C Score | -3.56 | Disc. Support Prob. | 0.01843 | ||||||||||||||||||||
| Support | 8 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Discordant PEM pattern caused by incorrect mapping of one end of all fosmids due to sequence variation within SDs. | ||||||||||||||||||||||
+ Validation and genotyping
-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 | Sequence analysis |
| Status | False |
| Comment | Sequence analysis indicates that inversion prediction is caused by incorrect paired-end mapping due to a variable sequence region when comparing HG18 and HuRef SDs |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:225722441-225747917 | Breakpoint 2 | chr1:225759495-225789475 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
NA
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| Flexibility | 10.81 | GC content | 0.37 | Stability | 1.77 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:225740314-225753533 | 13,220 | chr1:225756438-225767414 | 10,977 | 0.923 | 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:25
| Breakpoint 1 | chr1:225722441-225747917 | Breakpoint 2 | chr1:225759495-225789475 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
