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dbVar

Database of genomic structural variation

nsv5889021

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:505

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: 333 SVs from 31 studies. See in: genome view

Submitted genomic241,104,301-241,104,805

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5889021	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	241,104,301	241,104,805
nsv5889021	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	242,043,716	242,044,220

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17409008	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17409008	Submitted genomic		NC_000002.12:g.241 104301_241104805de l	GRCh38 (hg38)		NC_000002.12	Chr2	241,104,301	241,104,805
nssv17409008	Remapped	Perfect	NC_000002.11:g.242 043716_242044220de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	242,043,716	242,044,220

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.

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