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dbVar

Database of genomic structural variation

nsv6392733

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:68,700

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: 248 SVs from 34 studies. See in: genome view

Submitted genomic80,290,501-80,359,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6392733	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	80,290,501	80,359,200
nsv6392733	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	81,211,655	81,280,354

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18212413	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18212413	Submitted genomic		NC_000004.12:g.802 90501_80359200dup	GRCh38 (hg38)		NC_000004.12	Chr4	80,290,501	80,359,200
nssv18212413	Remapped	Perfect	NC_000004.11:g.812 11655_81280354dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	81,211,655	81,280,354

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)
nssv18212413	<0.001	30	39272

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