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dbVar

Database of genomic structural variation

nsv6422625

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:12,500

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: 221 SVs from 37 studies. See in: genome view

Submitted genomic133,155,701-133,168,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6422625	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	133,155,701	133,168,200
nsv6422625	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	134,167,945	134,180,444

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18165732	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18165732	Submitted genomic		NC_000008.11:g.133 155701_133168200de l	GRCh38 (hg38)		NC_000008.11	Chr8	133,155,701	133,168,200
nssv18165732	Remapped	Perfect	NC_000008.10:g.134 167945_134180444de l	GRCh37.p13	First Pass	NC_000008.10	Chr8	134,167,945	134,180,444

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)
nssv18165732	0.001	48	39228

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