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dbVar

Database of genomic structural variation

nsv6528385

Organism: Homo sapiens

Study:nstd223 (Sedlazeck 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:28,643

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: 322 SVs from 50 studies. See in: genome view

Submitted genomic37,401,715-37,430,357

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6528385	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	37,401,715	37,430,357
nsv6528385	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	36,030,118	36,058,759

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18202229	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18202229	Submitted genomic		NC_000020.11:g.374 01715_37430357dup	GRCh38 (hg38)		NC_000020.11	Chr20	37,401,715	37,430,357
nssv18202229	Remapped	Good	NC_000020.10:g.360 30118_36058759dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	36,030,118	36,058,759

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)
nssv18202229	<0.001	1	39298

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