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dbVar

Database of genomic structural variation

nsv6516051

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:15,578

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: 106 SVs from 25 studies. See in: genome view

Submitted genomic46,035,078-46,050,655

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6516051	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	46,035,078	46,050,655
nsv6516051	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	46,538,336	46,553,913

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18046554	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18046554	Submitted genomic		NC_000019.10:g.460 35078_46050655del	GRCh38 (hg38)		NC_000019.10	Chr19	46,035,078	46,050,655
nssv18046554	Remapped	Perfect	NC_000019.9:g.4653 8336_46553913del	GRCh37.p13	First Pass	NC_000019.9	Chr19	46,538,336	46,553,913

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)
nssv18046554	<0.001	1	39242

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