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dbVar

Database of genomic structural variation

nsv6928344

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:164,079

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: 728 SVs from 90 studies. See in: genome view

Submitted genomic27,477,188-27,641,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6928344	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	27,477,188	27,641,266
nsv6928344	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	27,630,121	27,794,199

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18596656	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
nssv18596656	Submitted genomic		NC_000012.12:g.274 77188_27641266dup	GRCh38 (hg38)		NC_000012.12	Chr12	27,477,188	27,641,266
nssv18596656	Remapped	Perfect	NC_000012.11:g.276 30121_27794199dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	27,630,121	27,794,199

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)
nssv18596656	8e-06	2	257900

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