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

dbVar

Database of genomic structural variation

nsv6528245

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:130,495

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: 500 SVs from 61 studies. See in: genome view

Submitted genomic57,851,572-57,982,066

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6528245	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	57,851,572	57,982,066
nsv6528245	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	58,362,940	58,493,434

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18199721	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18199721	Submitted genomic		NC_000019.10:g.578 51572_57982066dup	GRCh38 (hg38)		NC_000019.10	Chr19	57,851,572	57,982,066
nssv18199721	Remapped	Perfect	NC_000019.9:g.5836 2940_58493434dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	58,362,940	58,493,434

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)
nssv18199721	<0.001	1	39248

You are here: NCBI