| Accession | HsInv0415 | Region of the inversion | chrY:6165541-10364516 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 4,192,241 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.5000 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chrY:6165541-6172277 |
| Ancestral orientation | NA | Breakpoint 2 | chrY:10357781-10364516 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Analysis of chromosomal inversions by single-molecule haplotyping by haplotype-fusion PCR | ||||||||||
| Method | YAC clones sequence analysis | ||||||||||
| Name | |||
| Breakpoint 1 | chrY:6162853-6460783 | Breakpoint 2 | chrY:10076034-10367201 |
| Individuals | |||
- 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 | chrY:6149768-6184955 | Breakpoint 2 | chrY:10352340-10371260 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99998 | ||||||||||||||||||||
| Support | 9 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Analysis of chromosomal inversions by single-molecule haplotyping by haplotype-fusion PCR | ||||
| Method | Haplotype-fusion PCR (HF-PCR) |
| Status | Validated |
| Genotyping | 13 individuals: 13 unknown 6 STD - 6 INV - 1 ND |
- Frequency
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Unknown
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Unknown (Turner et al. 2006) | 12 | 6 | 0.5000 | 0.5000 | NA |
| Unknown
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Unknown summary | 12 | 6 | 0.5000 | 0.5000 | NA |
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+ Breakpoints
| Breakpoint 1 | chrY:6165541-6172277 | Breakpoint 2 | chrY:10357781-10364516 | |||||||||||||
| Study | Turner et al. 2006 | |||||||||||||||
| Description | Breakpoints defined by comparison with sequenced YAC clones | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.14 | GC content | 0.5 | Stability | 2.04 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 300 kb blocks of inverted SDs with high identity |
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Sequence features |
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Segmental duplications:
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+ 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 10:14:38
| Breakpoint 1 | chrY:6162853-6184955 | Breakpoint 2 | chrY:10352340-10367201 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:38
| Breakpoint 1 | chrY:6149768-6184955 | Breakpoint 2 | chrY:10352340-10371260 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:38
| Breakpoint 1 | chrY:6165541-6172277 | Breakpoint 2 | chrY:10357781-10364516 |
| Study | Turner et al. 2006 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with sequenced YAC clones | ||
| Definition method | Manual curation | ||
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Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.