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

dbVar

Database of genomic structural variation

nsv5885478

Organism: Homo sapiens

Study:nstd209 (Almarri 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:53

Publication(s):Almarri et al. 2020

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

Submitted genomic32,081,050-32,081,102

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5885478	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	32,081,050	32,081,102
nsv5885478	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	32,546,651	32,546,703

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17375966	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17375966	Submitted genomic		NC_000001.11:g.320 81050_32081102del	GRCh38 (hg38)		NC_000001.11	Chr1	32,081,050	32,081,102
nssv17375966	Remapped	Perfect	NC_000001.10:g.325 46651_32546703del	GRCh37.p13	First Pass	NC_000001.10	Chr1	32,546,651	32,546,703

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