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dbVar

Database of genomic structural variation

nsv7012002

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:499

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: 142 SVs from 42 studies. See in: genome view

Submitted genomic53,369,415-53,369,913

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7012002	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	53,369,415	53,369,913
nsv7012002	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	53,872,668	53,873,166

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18425878	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
nssv18425878	Submitted genomic		NC_000019.10:g.533 69415_53369913del	GRCh38 (hg38)		NC_000019.10	Chr19	53,369,415	53,369,913
nssv18425878	Remapped	Perfect	NC_000019.9:g.5387 2668_53873166del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,872,668	53,873,166

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)
nssv18425878	0.106	22312	211860

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