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dbVar

Database of genomic structural variation

nsv7026494

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:153

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

Submitted genomic48,811,573-48,811,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7026494	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	48,811,573	48,811,725
nsv7026494	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	47,428,110	47,428,262

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18641585	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18641585	Submitted genomic		NC_000020.11:g.488 11573_48811725dup	GRCh38 (hg38)		NC_000020.11	Chr20	48,811,573	48,811,725
nssv18641585	Remapped	Perfect	NC_000020.10:g.474 28110_47428262dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	47,428,110	47,428,262

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)
nssv18641585	0.208	43588	212140

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