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dbVar

Database of genomic structural variation

nsv5533226

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:3,758,002

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: 13740 SVs from 124 studies. See in: genome view

Submitted genomic68,334-3,826,335

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5533226	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	68,334	3,826,335
nsv5533226	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	60,002	3,806,982

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17730151	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17730151	Submitted genomic		NC_000020.11:g.683 34_3826335dup	GRCh38 (hg38)		NC_000020.11	Chr20	68,334	3,826,335
nssv17730151	Remapped	Good	NC_000020.10:g.600 02_3806982dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	60,002	3,806,982

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)
nssv17730151	<0.001	1	6404

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