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dbVar

Database of genomic structural variation

nsv6993923

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:54

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: 152 SVs from 28 studies. See in: genome view

Submitted genomic80,217,586-80,217,639

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6993923	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	80,217,586	80,217,639
nsv6993923	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	78,191,385	78,191,438

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18414385	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
nssv18414385	Submitted genomic		NC_000017.11:g.802 17586_80217639del	GRCh38 (hg38)		NC_000017.11	Chr17	80,217,586	80,217,639
nssv18414385	Remapped	Perfect	NC_000017.10:g.781 91385_78191438del	GRCh37.p13	First Pass	NC_000017.10	Chr17	78,191,385	78,191,438

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)
nssv18414385	0.003	779	253682

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