| Accession | HsInv0301 | Region of the inversion | chr7:71967070-74995983 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 2,406,107 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.0279 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:71967070-72382390 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:74165689-74995983 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Characterization of an inversion polymorphism in families with Williams-Beuren syndrome | ||||||||||||||
| Method | Fluorescence in situ hybridization (FISH) | ||||||||||||||
| Name | |||
| Breakpoint 1 | chr7:71967070-72382390 | Breakpoint 2 | chr7:74165689-74995983 |
| Individuals | |||
| Comments | Breakpoints defined by INVFEST to include all pairs of inverted segmental duplications located at both predicted breakpoint regions | ||
- 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 | chr7:72025715-72067654 | Breakpoint 2 | chr7:74883733-74905320 | ||||||||||||||||||||
| D/C Score | -1.67 | Disc. Support Prob. | 0.00536 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Analysis of the inversion of the Williams syndrome region in parents of children with Williams syndrome and control couples | ||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Genotyping | 48 individuals: 48 unknown 46 STD/STD - 2 STD/INV |
| Comment | Frequency of the inversion estimated from control couples with two healthy children |
| Description | Analysis of the inversion of the Williams syndrome region in parents of children with Williams syndrome | ||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Genotyping | 257 individuals: 257 unknown 242 STD/STD - 15 STD/INV |
| Comment | Inversion frequency estimated from the parents non-transmitting the Williams syndrome deletion to their children (probably similar to that in the general population) |
| Description | Characterization of an inversion polymorphism in families with Williams-Beuren syndrome | ||||||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
| Method | Pulsed field gel electrophoresis (PFGE) |
| Status | Validated |
-INVFEST curation
| Description | Information update by manual analysis of InvFEST curators | ||
| Method | Sequence analysis |
| Status | Breakpoint refinement |
- 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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All samples and studies | 305 | 17 | 0.9721 | 0.0279 | > 0.5 |
| Unknown
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Unknown summary | 305 | 17 | 0.9721 | 0.0279 | > 0.5 |
|---|
+ Breakpoints
| Breakpoint 1 | chr7:71967070-72382390 | Breakpoint 2 | chr7:74165689-74995983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Study | INVFEST curation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Description | Breakpoints defined by InvFEST curators as the largest blocks of inverted segmental duplications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Definition method | Manual curation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mechanism of origin |
NAHR
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| Flexibility | 10.44 | GC content | 0.56 | Stability | 2.07 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between large 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
| The presence of the inversion has been associated with genomic deletions causing the Williams-Beuren syndrome | Osborne et al. 2001 |
| The presence of the inversion in heterozygosis in a parent increases the risk to have a child with Williams syndrome to about 1 in 1,750 (in contrast to the 1 in 9,500 chance for a parent without the inversion) | Hobart et al. 2010 |
+ Report history
- 2016-12-09 18:59:43
| Breakpoint 1 | chr7:72025715-72067654 | Breakpoint 2 | chr7:74883733-74905320 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr7:72025715-72067654 | Breakpoint 2 | chr7:74883733-74905320 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr7:71967070-72382390 | Breakpoint 2 | chr7:74165689-74995983 |
| Study | INVFEST curation | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by InvFEST curators as the largest blocks of inverted segmental duplications | ||
| Definition method | Manual curation | ||
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