Inversion Report: HsInv0501

Human Polymorphic Inversion DataBase

Inversion Report: HsInv0501

General information

Accession	HsInv0501	Region of the inversion	chr8:6909898-12617968
Status	Validated	Prediction type	Simple
Estimated Inversion Size	4,695,489 bp	Supporting predictions	3
Inverted allele frequency	0.3600	Mechanism of origin	NAHR
Functional effect	Intergenic breakpoints	Breakpoint 1	chr8:6909898-8134378
Ancestral orientation	Inverted	Breakpoint 2	chr8:11817283-12617968

- Region map

+ Predictions

+ Validation and genotyping

-Salm et al. 2012

Description

Study of the origin, distribution and functional effects of the 8p23 inversion polymorphism

Method	Fluorescence in situ hybridization (FISH)
Status	Validated
Genotyping	103 individuals: 101 HapMap/1000GP, 2 Other 24 STD/STD - 54 STD/INV - 25 INV/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:

Only modified sections are submitted. All the corresponding fields must be complete because they will be overwritten. In the Frequency without genotypes section multiple populations can be added if the editing process is repeated for each one of them.

-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 8 STD/STD - 15 STD/INV - 4 INV/INV

Status
Force status
Comment

+ Validation details

+ Individuals:

+ Frequency without genotypes:

+ Manually curated breakpoints:

-Giglio et al. 2002

Description

Analysis of two inversions involving olfactory receptor-gene clusters that mediate a recurrent translocation

Method	Fluorescence in situ hybridization (FISH)
Status	Validated
Genotyping	50 individuals: 50 unknown 37 STD/STD - 13 STD/INV
Comment	Inversion genotyped in 50 controls individuals

Status
Force status
Comment

+ Validation details

+ Individuals:

+ Frequency without genotypes:

+ Manually curated breakpoints:

- Frequency

+ Africa (AFR)

Population	Sample and Study	Independent individuals	Inverted alleles	Standard frequency	Inverted frequency	HWE p-value
Yoruba	All samples and studies	24	25	0.4792	0.5208	> 0.5

Africa (AFR)	Africa (AFR) summary	24	25	0.4792	0.5208	> 0.5

+ Europe (EUR)

Population	Sample and Study	Independent individuals	Inverted alleles	Standard frequency	Inverted frequency	HWE p-value
Northwestern European	All samples and studies	50	57	0.4300	0.5700	> 0.1

Europe (EUR)	Europe (EUR) summary	50	57	0.4300	0.5700	> 0.1

+ East Asia (EAS)

Population	Sample and Study	Independent individuals	Inverted alleles	Standard frequency	Inverted frequency	HWE p-value
Han Chinese	All samples and studies	7	5	0.6429	0.3571	> 0.1
Japanese	All samples and studies	19	8	0.7895	0.2105	> 0.2

East Asia (EAS)	East Asia (EAS) summary	26	13	0.7500	0.2500	> 0.05

+ Unknown

Population	Sample and Study	Independent individuals	Inverted alleles	Standard frequency	Inverted frequency	HWE p-value
Unknown	Unknown (Giglio et al. 2002)	50	13	0.8700	0.1300	> 0.2

Unknown	Unknown summary	50	13	0.8700	0.1300	> 0.2

+ Breakpoints

Breakpoint 1	chr8:6909898-8134378	Breakpoint 2	chr8:11817283-12617968
Description	Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint
Definition method	Default informatic definition
Mechanism of origin	NAHR

Flexibility

0.44

GC content

Stability

Comments

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

Sequence features

Segmental duplications:

Position SD1	Size (bp)	Position SD2	Size (bp)	Identity	Relative orientation
chr8:6909898-6919457	9,560	chr8:12608621-12617968	9,348	0.911	Inverted
chr8:6920792-6943606	22,815	chr8:11903577-11927642	24,066	0.936	Inverted
chr8:6920792-6941301	20,510	chr8:12564013-12585125	21,113	0.937	Inverted
chr8:6920792-6927080	6,289	chr8:11817283-11822580	5,298	0.914	Inverted
chr8:6920795-6926884	6,090	chr8:12600734-12604027	3,294	0.906	Inverted
chr8:6933975-6991245	57,271	chr8:12448564-12506204	57,641	0.943	Inverted
chr8:6933975-6986986	53,012	chr8:12511916-12564180	52,265	0.953	Inverted
chr8:6938243-6941301	3,059	chr8:12506037-12509055	3,019	0.926	Inverted
chr8:7017203-7092505	75,303	chr8:12511876-12586975	75,100	0.953	Direct
chr8:7060343-7069815	9,473	chr8:11903577-11912976	9,400	0.945	Direct
chr8:7069648-7092505	22,858	chr8:11905763-11929490	23,728	0.942	Direct
chr8:7084385-7092505	8,121	chr8:11817283-11824441	7,159	0.920	Direct
chr8:7084582-7092425	7,844	chr8:12600741-12605803	5,063	0.905	Direct
chr8:7107719-7115441	7,723	chr8:12313965-12321694	7,730	0.957	Inverted
chr8:7107720-7115441	7,722	chr8:12064684-12072412	7,729	0.956	Inverted
chr8:7122963-7130685	7,723	chr8:12313965-12321694	7,730	0.956	Inverted
chr8:7138207-7183224	45,018	chr8:12276250-12321694	45,445	0.956	Inverted
chr8:7138208-7225869	87,662	chr8:11986627-12072412	85,786	0.970	Inverted
chr8:7200012-7225869	25,858	chr8:12239836-12264172	24,337	0.968	Inverted
chr8:7398634-7406387	7,754	chr8:12313965-12321697	7,733	0.955	Direct
chr8:7398634-7406383	7,750	chr8:12064684-12072412	7,729	0.954	Direct
chr8:7413930-7421679	7,750	chr8:12064684-12072412	7,729	0.955	Direct
chr8:7413930-7421683	7,754	chr8:12313965-12321697	7,733	0.956	Direct
chr8:7436933-7462059	25,127	chr8:12561701-12586975	25,275	0.951	Inverted
chr8:7436933-7445048	8,116	chr8:11817283-11824441	7,159	0.921	Inverted
chr8:7436933-7459748	22,816	chr8:11905763-11929490	23,728	0.943	Inverted
chr8:7453916-7462059	8,144	chr8:12503726-12511876	8,151	0.995	Inverted
chr8:7456738-7459748	3,011	chr8:12499047-12502065	3,019	0.960	Inverted
chr8:7456738-7459748	3,011	chr8:12556963-12560029	3,067	0.926	Inverted
chr8:7459581-7462059	2,479	chr8:11910439-11912976	2,538	0.942	Inverted
chr8:7562060-7601050	38,991	chr8:12548112-12586975	38,864	0.946	Direct
chr8:7562060-7584062	22,003	chr8:12489944-12511876	21,933	0.978	Direct
chr8:7568939-7578411	9,473	chr8:11903577-11912976	9,400	0.945	Direct
chr8:7578244-7601050	22,807	chr8:11905763-11929490	23,728	0.942	Direct
chr8:7592929-7601050	8,122	chr8:11817283-11824441	7,159	0.919	Direct
chr8:7608636-7616382	7,747	chr8:12313965-12321694	7,730	0.957	Inverted
chr8:7608637-7616382	7,746	chr8:12064684-12072412	7,729	0.956	Inverted
chr8:7623927-7631678	7,752	chr8:12313965-12321697	7,733	0.955	Inverted
chr8:7623931-7631678	7,748	chr8:12064684-12072412	7,729	0.955	Inverted
chr8:7646870-7654621	7,752	chr8:12313965-12321697	7,733	0.955	Inverted
chr8:7646874-7654621	7,748	chr8:12064684-12072412	7,729	0.955	Inverted
chr8:7825885-7870364	44,480	chr8:12239836-12284637	44,802	0.979	Direct
chr8:7825885-7912022	86,138	chr8:11986627-12072412	85,786	0.971	Direct
chr8:7919569-7927319	7,751	chr8:12313965-12321697	7,733	0.955	Direct
chr8:7934925-7957749	22,825	chr8:11905763-11929490	23,728	0.944	Inverted
chr8:7934925-8010143	75,219	chr8:12511876-12586975	75,100	0.954	Inverted
chr8:7934925-7943045	8,121	chr8:11817283-11824441	7,159	0.920	Inverted
chr8:7951904-7999988	48,085	chr8:12463900-12511876	47,977	0.972	Inverted
chr8:7957582-7967066	9,485	chr8:11903577-11912976	9,400	0.948	Inverted
chr8:8001217-8134378	133,162	chr8:12321710-12461735	140,026	0.979	Inverted
chr8:8113145-8134378	21,234	chr8:12072429-12099344	26,916	0.955	Inverted

+ Evolutionary history

Ancestral allele	Inverted	Age	390,000-520,000 years
Derived allele	Standard	Origin	ND

+ Orientation in other species

+ Age

+ Origin

+ 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.

Name
Breakpoint 1	chr8:8001218-8134378	Breakpoint 2	chr8:12321711-12461735
Individuals

Name
Breakpoint 1	chr8:6909899-8134378	Breakpoint 2	chr8:11817284-12617968
Individuals
Comments	Breakpoints defined by INVFEST to include all pairs of inverted segmental duplications located at both predicted breakpoint regions

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)

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

Breakpoint 1	chr8:8075969-8108325	Breakpoint 2	chr8:12350431-12382787
Assembly	hg18
Definition method	Default informatic definition