| Accession | HsInv0363 | Region of the inversion | chr16:14770485-15354091 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 573,607 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr16:14770485-14780485 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:15344091-15354091 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| 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 | chr16:14775485-14775485 | Breakpoint 2 | chr16:15349091-15349091 | ||||
| Individuals |
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| Comments | Inversion actually detected by sequence analysis of CHM1 BAC sequence obtained with the Illumina Nextera system (no long-read sequencing) | ||||||
- 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 | chr16:14779912-14804557 | Breakpoint 2 | chr16:15323596-15354624 | ||||||||||||||||||||
| D/C Score | -1.1 | Disc. Support Prob. | 0.00006 | ||||||||||||||||||||
| Support | 8 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| 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 CHM1 BAC sequence obtained with the Illumina Nextera system |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr16:14770485-14780485 | Breakpoint 2 | chr16:15344091-15354091 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.73 | GC content | 0.44 | Stability | 1.88 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr16:14745594-14817732 | 72,139 | chr16:15313832-15385839 | 72,008 | 0.992 | 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr16:14770485-14780485 | Breakpoint 2 | chr16:15344091-15354091 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:50
| Breakpoint 1 | chr16:14779912-14804557 | Breakpoint 2 | chr16:15323596-15354624 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
