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dbVar

Database of genomic structural variation

nsv6794027

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:59

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: 84 SVs from 16 studies. See in: genome view

Submitted genomic46,282,383-46,282,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6794027	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	46,282,383	46,282,441
nsv6794027	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	46,250,120	46,250,178

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18712928	duplication	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
nssv18712928	Submitted genomic		NC_000006.12:g.462 82383_46282441dup	GRCh38 (hg38)		NC_000006.12	Chr6	46,282,383	46,282,441
nssv18712928	Remapped	Perfect	NC_000006.11:g.462 50120_46250178dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	46,250,120	46,250,178

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)
nssv18712928	0.007	1405	209082

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