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dbVar

Database of genomic structural variation

nsv5516212

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:391

Publication(s):Byrska-Bishop et al. 2022

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: 169 SVs from 32 studies. See in: genome view

Submitted genomic500,836-501,226

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5516212	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	500,836	501,226
nsv5516212	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	481,480	481,870

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17730196	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17730196	Submitted genomic		NC_000020.11:g.500 836_501226del	GRCh38 (hg38)		NC_000020.11	Chr20	500,836	501,226
nssv17730196	Remapped	Perfect	NC_000020.10:g.481 480_481870del	GRCh37.p13	First Pass	NC_000020.10	Chr20	481,480	481,870

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17730196	0.004	23	6404

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