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dbVar

Database of genomic structural variation

nsv7001512

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:36,800

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: 197 SVs from 46 studies. See in: genome view

Submitted genomic41,466,701-41,503,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7001512	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	41,466,701	41,503,500
nsv7001512	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775434.1	Chr19\|NW_0 04775434.1	35,740	72,539

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18425093	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
nssv18425093	Submitted genomic		NC_000019.10:g.414 66701_41503500del	GRCh38 (hg38)		NC_000019.10	Chr19	41,466,701	41,503,500
nssv18425093	Remapped	Perfect	NW_004775434.1:g.3 5740_72539del	GRCh37.p13	First Pass	NW_004775434.1	Chr19\|NW_0 04775434.1	35,740	72,539

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)
nssv18425093	0.002	599	255656

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