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

dbVar

Database of genomic structural variation

nsv5906616

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:224

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: 164 SVs from 39 studies. See in: genome view

Submitted genomic68,242,187-68,242,410

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5906616	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	68,242,187	68,242,410
nsv5906616	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	69,107,905	69,108,128

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17410010	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17410010	Submitted genomic		NC_000004.12:g.682 42187_68242410del	GRCh38 (hg38)		NC_000004.12	Chr4	68,242,187	68,242,410
nssv17410010	Remapped	Perfect	NC_000004.11:g.691 07905_69108128del	GRCh37.p13	First Pass	NC_000004.11	Chr4	69,107,905	69,108,128

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