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dbVar

Database of genomic structural variation

nsv7053948

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:3,254,662

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: 9449 SVs from 108 studies. See in: genome view

Submitted genomic236,325,891-239,580,552

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7053948	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	236,325,891	239,580,552
nsv7053948	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	237,234,534	240,502,246

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18767799	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
nssv18767799	Submitted genomic		NC_000002.12:g.236 325891_239580552in v	GRCh38 (hg38)		NC_000002.12	Chr2	236,325,891	239,580,552
nssv18767799	Remapped	Good	NC_000002.11:g.237 234534_240502246in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	237,234,534	240,502,246

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)
nssv18767799	1.1e-05	3	274280

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