Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6473471

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:9,999

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

Submitted genomic56,491,102-56,501,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6473471	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	56,491,102	56,501,100
nsv6473471	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	56,258,578	56,268,576

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18184774	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18184774	Submitted genomic		NC_000011.10:g.564 91102_56501100dup	GRCh38 (hg38)		NC_000011.10	Chr11	56,491,102	56,501,100
nssv18184774	Remapped	Perfect	NC_000011.9:g.5625 8578_56268576dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	56,258,578	56,268,576

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)
nssv18184774	<0.001	1	39192

You are here: NCBI