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dbVar

Database of genomic structural variation

nsv6452391

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:6,200

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

Submitted genomic80,219,601-80,225,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6452391	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	80,219,601	80,225,800
nsv6452391	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	81,979,357	81,985,556

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17983618	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17983618	Submitted genomic		NC_000010.11:g.802 19601_80225800del	GRCh38 (hg38)		NC_000010.11	Chr10	80,219,601	80,225,800
nssv17983618	Remapped	Perfect	NC_000010.10:g.819 79357_81985556del	GRCh37.p13	First Pass	NC_000010.10	Chr10	81,979,357	81,985,556

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)
nssv17983618	<0.001	8	39242

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