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dbVar

Database of genomic structural variation

nsv6940501

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:9,259

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

Submitted genomic20,715,860-20,725,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6940501	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	20,715,860	20,725,118
nsv6940501	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	21,184,019	21,193,277

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18383890	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
nssv18383890	Submitted genomic		NC_000014.9:g.2071 5860_20725118del	GRCh38 (hg38)		NC_000014.9	Chr14	20,715,860	20,725,118
nssv18383890	Remapped	Perfect	NC_000014.8:g.2118 4019_21193277del	GRCh37.p13	First Pass	NC_000014.8	Chr14	21,184,019	21,193,277

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)
nssv18383890	1.1e-05	3	276260

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