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dbVar

Database of genomic structural variation

nsv6733069

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:71,300

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: 927 SVs from 83 studies. See in: genome view

Submitted genomic130,041,401-130,112,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6733069	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	130,041,401	130,112,700
nsv6733069	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	129,760,244	129,831,543

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18473368	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
nssv18473368	Submitted genomic		NC_000003.12:g.130 041401_130112700de l	GRCh38 (hg38)		NC_000003.12	Chr3	130,041,401	130,112,700
nssv18473368	Remapped	Perfect	NC_000003.11:g.129 760244_129831543de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,760,244	129,831,543

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)
nssv18473368	0.027	6330	228978

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