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dbVar

Database of genomic structural variation

nsv6839231

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:12,415

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: 217 SVs from 37 studies. See in: genome view

Submitted genomic133,158,336-133,170,750

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6839231	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	133,158,336	133,170,750
nsv6839231	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	134,170,580	134,182,994

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18737712	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
nssv18737712	Submitted genomic		NC_000008.11:g.133 158336_133170750du p	GRCh38 (hg38)		NC_000008.11	Chr8	133,158,336	133,170,750
nssv18737712	Remapped	Perfect	NC_000008.10:g.134 170580_134182994du p	GRCh37.p13	First Pass	NC_000008.10	Chr8	134,170,580	134,182,994

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)
nssv18737712	4e-06	1	275514

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