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dbVar

Database of genomic structural variation

nsv7009444

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:21,200

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

Submitted genomic51,626,001-51,647,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7009444	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,626,001	51,647,200
nsv7009444	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,129,254	52,150,453

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424312	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
nssv18424312	Submitted genomic		NC_000019.10:g.516 26001_51647200del	GRCh38 (hg38)		NC_000019.10	Chr19	51,626,001	51,647,200
nssv18424312	Remapped	Perfect	NC_000019.9:g.5212 9254_52150453del	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,129,254	52,150,453

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)
nssv18424312	0.222	55321	250952

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