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

dbVar

Database of genomic structural variation

nsv6524404

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:7,400

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: 433 SVs from 71 studies. See in: genome view

Submitted genomic51,638,601-51,646,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6524404	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,638,601	51,646,000
nsv6524404	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,141,854	52,149,253

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18198315	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18198315	Submitted genomic		NC_000019.10:g.516 38601_51646000dup	GRCh38 (hg38)		NC_000019.10	Chr19	51,638,601	51,646,000
nssv18198315	Remapped	Perfect	NC_000019.9:g.5214 1854_52149253dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,141,854	52,149,253

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)
nssv18198315	0.026	671	26170

You are here: NCBI