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

dbVar

Database of genomic structural variation

nsv5582383

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:84

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

Submitted genomic131,379,134-131,379,217

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5582383	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	131,379,134	131,379,217
nsv5582383	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	131,097,978	131,098,061

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17134734	deletion	SAMN00000485	Sequencing	Sequence alignment	1,404

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17134734	Submitted genomic		NC_000003.12:g.131 379134_131379217de lT	GRCh38 (hg38)		NC_000003.12	Chr3	131,379,134	131,379,217
nssv17134734	Remapped	Perfect	NC_000003.11:g.131 097978_131098061de lT	GRCh37.p13	First Pass	NC_000003.11	Chr3	131,097,978	131,098,061

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