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dbVar

Database of genomic structural variation

nsv7000725

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:14,466

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: 625 SVs from 74 studies. See in: genome view

Submitted genomic54,242,402-54,256,867

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7000725	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	54,242,402	54,256,867
nsv7000725	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	216,769	231,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424384	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
nssv18424384	Submitted genomic		NC_000019.10:g.542 42402_54256867del	GRCh38 (hg38)		NC_000019.10	Chr19	54,242,402	54,256,867
nssv18424384	Remapped	Perfect	NW_004166865.1:g.2 16769_231234del	GRCh37.p13	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	216,769	231,234

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)
nssv18424384	4e-06	1	271784

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