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dbVar

Database of genomic structural variation

nsv7071931

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:9,625,188

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 23783 SVs from 129 studies. See in: genome view

Submitted genomic55,156,710-64,781,897

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7071931	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	55,156,710	64,781,897
nsv7071931	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	55,550,494	65,175,677

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18752373	inversion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18752373	Submitted genomic		NC_000012.12:g.551 56710_64781897inv	GRCh38 (hg38)		NC_000012.12	Chr12	55,156,710	64,781,897
nssv18752373	Remapped	Perfect	NC_000012.11:g.555 50494_65175677inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	55,550,494	65,175,677

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18752373	1.1e-05	3	270478

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