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dbVar

Database of genomic structural variation

nsv6918545

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:33,255

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: 215 SVs from 29 studies. See in: genome view

Submitted genomic4,366,569-4,399,823

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6918545	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	4,366,569	4,399,823
nsv6918545	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	4,475,735	4,508,989

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18361472	deletion	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
nssv18361472	Submitted genomic		NC_000012.12:g.436 6569_4399823del	GRCh38 (hg38)		NC_000012.12	Chr12	4,366,569	4,399,823
nssv18361472	Remapped	Perfect	NC_000012.11:g.447 5735_4508989del	GRCh37.p13	First Pass	NC_000012.11	Chr12	4,475,735	4,508,989

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)
nssv18361472	1.4e-05	4	275712

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