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dbVar

Database of genomic structural variation

nsv5966777

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:148

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: 213 SVs from 20 studies. See in: genome view

Submitted genomic45,594,692-45,594,839

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5966777	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	45,594,692	45,594,839
nsv5966777	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	45,990,572	45,990,719

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17393444	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17393444	Submitted genomic		NC_000022.11:g.455 94692_45594839del	GRCh38 (hg38)		NC_000022.11	Chr22	45,594,692	45,594,839
nssv17393444	Remapped	Perfect	NC_000022.10:g.459 90572_45990719del	GRCh37.p13	First Pass	NC_000022.10	Chr22	45,990,572	45,990,719

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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