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dbVar

Database of genomic structural variation

nsv6550513

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:3,919

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

Submitted genomic32,412,477-32,416,395

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6550513	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	32,412,477	32,416,395
nsv6550513	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	32,808,464	32,812,382

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18073781	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18073781	Submitted genomic		NC_000022.11:g.324 12477_32416395del	GRCh38 (hg38)		NC_000022.11	Chr22	32,412,477	32,416,395
nssv18073781	Remapped	Perfect	NC_000022.10:g.328 08464_32812382del	GRCh37.p13	First Pass	NC_000022.10	Chr22	32,808,464	32,812,382

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)
nssv18073781	<0.001	1	38940

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