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dbVar

Database of genomic structural variation

nsv6843493

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:63

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: 191 SVs from 29 studies. See in: genome view

Submitted genomic22,589,085-22,589,147

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6843493	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	22,589,085	22,589,147
nsv6843493	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	22,446,598	22,446,660

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18554128	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
nssv18554128	Submitted genomic		NC_000008.11:g.225 89085_22589147del	GRCh38 (hg38)		NC_000008.11	Chr8	22,589,085	22,589,147
nssv18554128	Remapped	Perfect	NC_000008.10:g.224 46598_22446660del	GRCh37.p13	First Pass	NC_000008.10	Chr8	22,446,598	22,446,660

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)
nssv18554128	0.045	10663	238730

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