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dbVar

Database of genomic structural variation

nsv7009333

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:20,100

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

Submitted genomic51,627,101-51,647,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7009333	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,627,101	51,647,200
nsv7009333	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,130,354	52,150,453

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424314	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
nssv18424314	Submitted genomic		NC_000019.10:g.516 27101_51647200del	GRCh38 (hg38)		NC_000019.10	Chr19	51,627,101	51,647,200
nssv18424314	Remapped	Perfect	NC_000019.9:g.5213 0354_52150453del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,130,354	52,150,453

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)
nssv18424314	0.217	53253	247098

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