| Accession | HsInv1054 | Region of the inversion | chr10:37148086-59748194 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 22,600,107 bp | Supporting predictions | 1 |
| Inverted allele frequency | 0.0001 | Mechanism of origin | NHEJ |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr10:37148086-37148088 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:59748192-59748194 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Breakpoint cloning and haplotype analysis of the common Inv(10)(p11.2q21.2) mutation among northern Europeans | ||||||||||
| Method | Cloning | ||||||||||
| Name | |||
| Breakpoint 1 | chr10:37148086-37148088 | Breakpoint 2 | chr10:59748192-59748194 |
| Individuals | |||
+ Validation and genotyping
| Description | Breakpoint cloning and haplotype analysis of the common Inv(10)(p11.2q21.2) mutation among northern Europeans | ||||||||||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Comment | Inversion breakpoints were amplified and sequenced in 20 families carrying the inversion of diverse origins |
| Method | Karyotype analysis |
| Status | Validated |
| Genotyping | 23500 individuals (No genotypes available) |
| Comment | Inversion frequency among prenatal diagnostic referrals is 1/3,600 in Germany, 1/7,100 in Denmark, and 1/12,800 in United Kingdom |
- Frequency
|
|
+ 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) (Gilling et al. 2006) | 23500 | 3 | 0.9999 | 0.0001 | NA |
| Europe (EUR) | Europe (EUR) summary | 23500 | 3 | 0.9999 | 0.0001 | NA |
|---|
+ Breakpoints
| Breakpoint 1 | chr10:37148086-37148088 | Breakpoint 2 | chr10:59748192-59748194 | ||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NHEJ
|
||||
| Flexibility | 13.05 | GC content | 0.23 | Stability | 1.57 |
| Comments |
Inversion generated by non-homologous end joining (NHEJ) with no microhomology and breakpoints can be located within one single base |
||
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | Unique |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
| Origin | Method | Study |
| Unique | Analysis of breakpoint sequences | Gilling et al. 2006 |
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:15:27
| Breakpoint 1 | chr10:37148086-37148088 | Breakpoint 2 | chr10:59748192-59748194 |
| Assembly | hg18 | ||
| 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.