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dbVar

Database of genomic structural variation

nsv7011984

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:21,500

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: 525 SVs from 75 studies. See in: genome view

Submitted genomic51,627,001-51,648,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7011984	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,627,001	51,648,500
nsv7011984	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,130,254	52,151,753

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424313	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
nssv18424313	Submitted genomic		NC_000019.10:g.516 27001_51648500del	GRCh38 (hg38)		NC_000019.10	Chr19	51,627,001	51,648,500
nssv18424313	Remapped	Perfect	NC_000019.9:g.5213 0254_52151753del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,130,254	52,151,753

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)
nssv18424313	0.224	56373	253276

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