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dbVar

Database of genomic structural variation

nsv6749217

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:7,800

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: 297 SVs from 43 studies. See in: genome view

Submitted genomic184,812,401-184,820,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6749217	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	184,812,401	184,820,200
nsv6749217	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	185,733,555	185,741,354

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18493184	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
nssv18493184	Submitted genomic		NC_000004.12:g.184 812401_184820200de l	GRCh38 (hg38)		NC_000004.12	Chr4	184,812,401	184,820,200
nssv18493184	Remapped	Perfect	NC_000004.11:g.185 733555_185741354de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	185,733,555	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)
nssv18493184	4e-06	1	253626

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