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dbVar

Database of genomic structural variation

nsv6408667

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:53,500

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: 227 SVs from 36 studies. See in: genome view

Submitted genomic115,804,001-115,857,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6408667	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	115,804,001	115,857,500
nsv6408667	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	115,139,698	115,193,197

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18212467	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18212467	Submitted genomic		NC_000005.10:g.115 804001_115857500du p	GRCh38 (hg38)		NC_000005.10	Chr5	115,804,001	115,857,500
nssv18212467	Remapped	Perfect	NC_000005.9:g.1151 39698_115193197dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	115,139,698	115,193,197

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)
nssv18212467	<0.001	29	39276

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