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dbVar

Database of genomic structural variation

nsv6836471

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:296

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: 158 SVs from 55 studies. See in: genome view

Submitted genomic114,313,463-114,313,758

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6836471	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	114,313,463	114,313,758
nsv6836471	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	113,953,518	113,953,813

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18533881	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
nssv18533881	Submitted genomic		NC_000007.14:g.114 313463_114313758de l	GRCh38 (hg38)		NC_000007.14	Chr7	114,313,463	114,313,758
nssv18533881	Remapped	Perfect	NC_000007.13:g.113 953518_113953813de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	113,953,518	113,953,813

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)
nssv18533881	0.516	122024	238560

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