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dbVar

Database of genomic structural variation

nsv7014387

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:17,900

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: 493 SVs from 75 studies. See in: genome view

Submitted genomic51,629,701-51,647,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7014387	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,629,701	51,647,600
nsv7014387	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,132,954	52,150,853

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18425508	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
nssv18425508	Submitted genomic		NC_000019.10:g.516 29701_51647600del	GRCh38 (hg38)		NC_000019.10	Chr19	51,629,701	51,647,600
nssv18425508	Remapped	Perfect	NC_000019.9:g.5213 2954_52150853del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,132,954	52,150,853

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)
nssv18425508	0.226	56412	251240

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