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dbVar

Database of genomic structural variation

nsv5597429

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:300

Publication(s):Ebert et al. 2021

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: 142 SVs from 26 studies. See in: genome view

Submitted genomic3,120,329-3,120,628

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5597429	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	3,120,329	3,120,628
nsv5597429	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	3,100,975	3,101,274

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17116328	deletion	HG03125	Sequencing	Sequence alignment	5,031

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17116328	Submitted genomic		NC_000020.11:g.312 0329_3120628delG	GRCh38 (hg38)		NC_000020.11	Chr20	3,120,329	3,120,628
nssv17116328	Remapped	Perfect	NC_000020.10:g.310 0975_3101274delG	GRCh37.p13	First Pass	NC_000020.10	Chr20	3,100,975	3,101,274

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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