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dbVar

Database of genomic structural variation

nsv6814831

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:5,192

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: 137 SVs from 39 studies. See in: genome view

Submitted genomic160,228,735-160,233,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6814831	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	160,228,735	160,233,926
nsv6814831	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	160,649,767	160,654,958

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18523387	deletion	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
nssv18523387	Submitted genomic		NC_000006.12:g.160 228735_160233926de l	GRCh38 (hg38)		NC_000006.12	Chr6	160,228,735	160,233,926
nssv18523387	Remapped	Perfect	NC_000006.11:g.160 649767_160654958de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	160,649,767	160,654,958

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)
nssv18523387	0.009	2074	252752

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