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dbVar

Database of genomic structural variation

nsv6923508

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

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

Submitted genomic120,094,658-120,094,690

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6923508	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	120,094,658	120,094,690
nsv6923508	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	120,532,462	120,532,494

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18357050	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
nssv18357050	Submitted genomic		NC_000012.12:g.120 094658_120094690de l	GRCh38 (hg38)		NC_000012.12	Chr12	120,094,658	120,094,690
nssv18357050	Remapped	Perfect	NC_000012.11:g.120 532462_120532494de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	120,532,462	120,532,494

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)
nssv18357050	0.106	25451	245160

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