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dbVar

Database of genomic structural variation

nsv6723208

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:9,147,248

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: 27879 SVs from 131 studies. See in: genome view

Submitted genomic5,355,032-14,502,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6723208	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	5,355,032	14,502,279
nsv6723208	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	5,356,759	14,503,903

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18499842	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
nssv18499842	Submitted genomic		NC_000004.12:g.535 5032_14502279del	GRCh38 (hg38)		NC_000004.12	Chr4	5,355,032	14,502,279
nssv18499842	Remapped	Good	NC_000004.11:g.535 6759_14503903del	GRCh37.p13	First Pass	NC_000004.11	Chr4	5,356,759	14,503,903

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)
nssv18499842	4e-06	1	275952

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