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

dbVar

Database of genomic structural variation

nsv5583417

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:3,578

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: 140 SVs from 50 studies. See in: genome view

Submitted genomic46,664,257-46,667,834

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5583417	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	46,664,257	46,667,834
nsv5583417	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	46,705,747	46,709,324

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17136956	deletion	SAMN00016965	Sequencing	Sequence alignment	1,475

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17136956	Submitted genomic		NC_000003.12:g.466 64257_46667834delT	GRCh38 (hg38)		NC_000003.12	Chr3	46,664,257	46,667,834
nssv17136956	Remapped	Perfect	NC_000003.11:g.467 05747_46709324delT	GRCh37.p13	First Pass	NC_000003.11	Chr3	46,705,747	46,709,324

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