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dbVar

Database of genomic structural variation

nsv7006068

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:259,400

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: 1032 SVs from 75 studies. See in: genome view

Submitted genomic20,938,801-21,198,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7006068	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	20,938,801	21,198,200
nsv7006068	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	21,121,607	21,381,003

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18637335	duplication	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
nssv18637335	Submitted genomic		NC_000019.10:g.209 38801_21198200dup	GRCh38 (hg38)		NC_000019.10	Chr19	20,938,801	21,198,200
nssv18637335	Remapped	Good	NC_000019.9:g.2112 1607_21381003dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	21,121,607	21,381,003

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)
nssv18637335	7e-06	2	273322

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