| Accession | HsInv1051 | Region of the inversion | chr17:18442024-18692134 |
| Status | Validated | Prediction type | Complex |
| Estimated Inversion Size | 225,826 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.0094 | Mechanism of origin | NAHR |
| Functional effect | Breaks one gene | Breakpoint 1 | chr17:18442024-18466271 |
| Ancestral orientation | NA | Breakpoint 2 | chr17:18667812-18692134 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr17:18428676-18452597 | Breakpoint 2 | chr17:18671019-18698689 | ||||||||||||||||||||
| D/C Score | -3.06 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr17:18463137-18481490 | Breakpoint 2 | chr17:18661029-18678540 | ||||||||||||||||||||
| D/C Score | -1.99 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 79 individuals: 78 HapMap/1000GP, 1 Other 71 STD/STD - 2 STD/INV - 6 ND  |
- Frequency
|
|
+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
|
Yoruba in Ibadan, Nigeria (YRI) (Aguado et al. 2014) | 5 | 1 | 0.9000 | 0.1000 | > 0.5 |
| Africa (AFR)
|
Africa (AFR) summary | 5 | 1 | 0.9000 | 0.1000 | > 0.5 |
|---|
+ Europe (EUR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Northwestern European
|
Utah residents with Northern and Western European ancestry (CEU) (Aguado et al. 2014) | 45 | 0 | 1.0000 | 0.0000 | NA |
| Europe (EUR)
|
Europe (EUR) summary | 45 | 0 | 1.0000 | 0.0000 | NA |
|---|
+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
|
Han Chinese in Beijing, China (CHB) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
|
Japanese in Tokyo, Japan (JPT) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| East Asia (EAS)
|
East Asia (EAS) summary | 2 | 0 | 1.0000 | 0.0000 | NA |
|---|
+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
|
Unknown (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Unknown
|
Unknown summary | 1 | 0 | 1.0000 | 0.0000 | NA |
|---|
+ Breakpoints
| Breakpoint 1 | chr17:18442024-18466271 | Breakpoint 2 | chr17:18667812-18692134 | |||||||||||||
| Description | Breakpoints defined as the most identical inverted segmental duplications | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
|
|||||||||||||||
| Flexibility | 10.59 | GC content | 0.45 | Stability | 1.81 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 24 kb inverted SDs with 99% identity |
|||||||||||||||
|
Sequence features |
||||||||||||||||
Segmental duplications:
| ||||||||||||||||
+ 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
- CCDC144B
| Gene position | chr17:18381839-18469655 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
HsInv0790 and HsInv0563 merge into HsInv1051
- 2015-02-23 10:15:26
| Breakpoint 1 | chr17:18428676-18481490 | Breakpoint 2 | chr17:18671019-18678540 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:26
| Breakpoint 1 | chr17:18442024-18466271 | Breakpoint 2 | chr17:18667812-18692134 |
| Assembly | hg18 | ||
| Description | Breakpoints defined as the most identical inverted segmental duplications | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona
Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.