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dbVar

Database of genomic structural variation

nsv7001279

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:7,200

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: 179 SVs from 51 studies. See in: genome view

Submitted genomic50,050,501-50,057,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7001279	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	50,050,501	50,057,700
nsv7001279	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	50,553,758	50,560,957

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424378	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
nssv18424378	Submitted genomic		NC_000019.10:g.500 50501_50057700del	GRCh38 (hg38)		NC_000019.10	Chr19	50,050,501	50,057,700
nssv18424378	Remapped	Perfect	NC_000019.9:g.5055 3758_50560957del	GRCh37.p13	First Pass	NC_000019.9	Chr19	50,553,758	50,560,957

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)
nssv18424378	0.037	9096	246728

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