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dbVar

Database of genomic structural variation

nsv6749128

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:10,100

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: 300 SVs from 44 studies. See in: genome view

Submitted genomic184,810,101-184,820,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6749128	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	184,810,101	184,820,200
nsv6749128	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	185,731,255	185,741,354

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18493179	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
nssv18493179	Submitted genomic		NC_000004.12:g.184 810101_184820200de l	GRCh38 (hg38)		NC_000004.12	Chr4	184,810,101	184,820,200
nssv18493179	Remapped	Perfect	NC_000004.11:g.185 731255_185741354de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	185,731,255	185,741,354

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)
nssv18493179	0.002	608	253280

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