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dbVar

Database of genomic structural variation

nsv7004133

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:10,935

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: 152 SVs from 39 studies. See in: genome view

Submitted genomic54,497,182-54,508,116

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7004133	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	54,497,182	54,508,116
nsv7004133	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	471,549	482,483

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424414	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
nssv18424414	Submitted genomic		NC_000019.10:g.544 97182_54508116del	GRCh38 (hg38)		NC_000019.10	Chr19	54,497,182	54,508,116
nssv18424414	Remapped	Perfect	NW_004166865.1:g.4 71549_482483del	GRCh37.p13	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	471,549	482,483

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)
nssv18424414	4e-06	1	276210

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