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

dbVar

Database of genomic structural variation

nsv6335120

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:5,800

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: 145 SVs from 31 studies. See in: genome view

Submitted genomic86,550,301-86,556,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6335120	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	86,550,301	86,556,100
nsv6335120	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	87,015,984	87,021,783

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18205182	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18205182	Submitted genomic		NC_000001.11:g.865 50301_86556100dup	GRCh38 (hg38)		NC_000001.11	Chr1	86,550,301	86,556,100
nssv18205182	Remapped	Perfect	NC_000001.10:g.870 15984_87021783dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	87,015,984	87,021,783

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)
nssv18205182	<0.001	3	39176

You are here: NCBI