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dbVar

Database of genomic structural variation

nsv6469151

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:37,900

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: 222 SVs from 47 studies. See in: genome view

Submitted genomic56,551,801-56,589,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6469151	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	56,551,801	56,589,700
nsv6469151	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	56,319,277	56,357,176

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17993076	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17993076	Submitted genomic		NC_000011.10:g.565 51801_56589700del	GRCh38 (hg38)		NC_000011.10	Chr11	56,551,801	56,589,700
nssv17993076	Remapped	Perfect	NC_000011.9:g.5631 9277_56357176del	GRCh37.p13	First Pass	NC_000011.9	Chr11	56,319,277	56,357,176

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)
nssv17993076	0.003	120	39304

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