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dbVar

Database of genomic structural variation

nsv5916341

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:59

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: 123 SVs from 25 studies. See in: genome view

Submitted genomic12,694,523-12,694,581

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5916341	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	12,694,523	12,694,581
nsv5916341	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	12,736,522	12,736,580

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17356521	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17356521	Submitted genomic		NC_000010.11:g.126 94523_12694581del	GRCh38 (hg38)		NC_000010.11	Chr10	12,694,523	12,694,581
nssv17356521	Remapped	Perfect	NC_000010.10:g.127 36522_12736580del	GRCh37.p13	First Pass	NC_000010.10	Chr10	12,736,522	12,736,580

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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