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

dbVar

Database of genomic structural variation

nsv5913599

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:449

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: 178 SVs from 38 studies. See in: genome view

Submitted genomic80,482,350-80,482,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5913599	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	80,482,350	80,482,798
nsv5913599	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	82,242,106	82,242,554

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17360309	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17360309	Submitted genomic		NC_000010.11:g.804 82350_80482798del	GRCh38 (hg38)		NC_000010.11	Chr10	80,482,350	80,482,798
nssv17360309	Remapped	Perfect	NC_000010.10:g.822 42106_82242554del	GRCh37.p13	First Pass	NC_000010.10	Chr10	82,242,106	82,242,554

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