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dbVar

Database of genomic structural variation

nsv6533943

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:1,613

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: 153 SVs from 24 studies. See in: genome view

Submitted genomic34,277,699-34,279,311

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6533943	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	34,277,699	34,279,311
nsv6533943	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	32,865,505	32,867,117

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18067489	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18067489	Submitted genomic		NC_000020.11:g.342 77699_34279311del	GRCh38 (hg38)		NC_000020.11	Chr20	34,277,699	34,279,311
nssv18067489	Remapped	Perfect	NC_000020.10:g.328 65505_32867117del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,865,505	32,867,117

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)
nssv18067489	<0.001	1	38800

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