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dbVar

Database of genomic structural variation

nsv5946968

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:99

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

Submitted genomic46,126,078-46,126,176

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5946968	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	46,126,078	46,126,176
nsv5946968	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	46,629,335	46,629,433

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17406789	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17406789	Submitted genomic		NC_000019.10:g.461 26078_46126176del	GRCh38 (hg38)		NC_000019.10	Chr19	46,126,078	46,126,176
nssv17406789	Remapped	Perfect	NC_000019.9:g.4662 9335_46629433del	GRCh37.p13	First Pass	NC_000019.9	Chr19	46,629,335	46,629,433

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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