Inversion Report: HsInv1048

Human Polymorphic Inversion DataBase

Inversion Report: HsInv1048

General information

Accession	HsInv1048	Region of the inversion	chr17:31799963-33389579
Status	Validated	Prediction type	Simple
Estimated Inversion Size	1,512,197 bp	Supporting predictions	1
Inverted allele frequency	0.0556	Mechanism of origin	NAHR
Functional effect	Intergenic breakpoints	Breakpoint 1	chr17:31799963-31889184
Ancestral orientation	Standard	Breakpoint 2	chr17:33323961-33389579

- Region map

+ Predictions

+ Validation and genotyping

-Antonacci et al. 2009

Description

Characterization of six large inversion polymorphisms with complex segmental duplications at the breakpoints in 27 individuals from three HapMap populations by a metaphase FISH-based assay

Method	Fluorescence in situ hybridization (FISH)
Status	Validated
Genotyping	27 individuals: 27 HapMap/1000GP 24 STD/STD - 3 STD/INV

Status
Force status
Comment

+ Validation details

+ Individuals:

+ Frequency without genotypes:

Please be aware that this information will be displayed in the Frequency section of the Inversion report, but the following will not be available: Hardy-Weinberg test and genotype file for download. Also, data will not be averaged with other studies of the same population.

Population
Analyzed individuals
Inverted alleles
Standard frequency
Inverted frequency

+ Manually curated breakpoints:

- Frequency

+ Africa (AFR)

Population	Sample and Study	Independent individuals	Inverted alleles	Standard frequency	Inverted frequency	HWE p-value
Yoruba	Yoruba in Ibadan, Nigeria (YRI) (Antonacci et al. 2009)	11	2	0.9091	0.0909	> 0.5

Africa (AFR)	Africa (AFR) summary	11	2	0.9091	0.0909	> 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) (Antonacci et al. 2009)	8	1	0.9375	0.0625	> 0.5

Europe (EUR)	Europe (EUR) summary	8	1	0.9375	0.0625	> 0.5

+ 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) (Antonacci et al. 2009)	4	0	1.0000	0.0000	NA
Japanese	Japanese in Tokyo, Japan (JPT) (Antonacci et al. 2009)	4	0	1.0000	0.0000	NA

East Asia (EAS)	East Asia (EAS) summary	8	0	1.0000	0.0000	NA

+ Breakpoints

Breakpoint 1	chr17:31799963-31889184	Breakpoint 2	chr17:33323961-33389579
Definition method	Default informatic definition
Mechanism of origin	NAHR

Flexibility

10.14

GC content

0.41

Stability

1.82

Comments

Inversion generated by non-allelic homologous recombination (NAHR) between large blocks of inverted SDs with >99% identity

Sequence features

Segmental duplications:

Position SD1	Size (bp)	Position SD2	Size (bp)	Identity	Relative orientation
chr17:31799962-31865328	65,367	chr17:33323960-33389579	65,620	0.997	Inverted
chr17:31865017-31889184	24,168	chr17:33351194-33375565	24,372	0.994	Inverted

+ Evolutionary history

+ Functional effects

+ Report history

Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Ancestral allele	Standard	Age	ND
Derived allele	Inverted	Origin	ND

Name
Breakpoint 1	chr17:31799963-31889184	Breakpoint 2	chr17:33323961-33389579
Individuals
Comments	Breakpoints defined by INVFEST spanning two inverted segmental duplications (24 and 65 kb long) located at both predicted breakpoint regions

Species	Orientation	Method	Study
Chimpanzee	Standard	Fluorescence in situ hybridization (FISH)	Antonacci et al. 2009
Bonobo	Standard	Fluorescence in situ hybridization (FISH)	Antonacci et al. 2009
Gorilla	Standard	Fluorescence in situ hybridization (FISH)	Antonacci et al. 2009