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

dbVar

Database of genomic structural variation

nsv5580630

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,609

Publication(s):Ebert et al. 2021

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: 214 SVs from 49 studies. See in: genome view

Submitted genomic17,438,071-17,441,679

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5580630	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	17,438,071	17,441,679
nsv5580630	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	17,438,302	17,441,910

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17151727	deletion	HG02587	Sequencing	Sequence alignment	2,330

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17151727	Submitted genomic		NC_000006.12:g.174 38071_17441679delG	GRCh38 (hg38)		NC_000006.12	Chr6	17,438,071	17,441,679
nssv17151727	Remapped	Perfect	NC_000006.11:g.174 38302_17441910delG	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,438,302	17,441,910

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI