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dbVar

Database of genomic structural variation

nsv5952421

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:563

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: 137 SVs from 38 studies. See in: genome view

Submitted genomic57,218,764-57,219,326

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5952421	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	57,218,764	57,219,326
nsv5952421	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	55,793,820	55,794,382

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17401943	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17401943	Submitted genomic		NC_000020.11:g.572 18764_57219326del	GRCh38 (hg38)		NC_000020.11	Chr20	57,218,764	57,219,326
nssv17401943	Remapped	Perfect	NC_000020.10:g.557 93820_55794382del	GRCh37.p13	First Pass	NC_000020.10	Chr20	55,793,820	55,794,382

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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