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dbVar

Database of genomic structural variation

nsv5956957

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:996

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: 167 SVs from 30 studies. See in: genome view

Submitted genomic43,115,588-43,116,583

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5956957	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	43,115,588	43,116,583
nsv5956957	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	43,511,594	43,512,589

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17392352	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17392352	Submitted genomic		NC_000022.11:g.431 15588_43116583del	GRCh38 (hg38)		NC_000022.11	Chr22	43,115,588	43,116,583
nssv17392352	Remapped	Perfect	NC_000022.10:g.435 11594_43512589del	GRCh37.p13	First Pass	NC_000022.10	Chr22	43,511,594	43,512,589

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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