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dbVar

Database of genomic structural variation

nsv6715509

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:33,371

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: 703 SVs from 73 studies. See in: genome view

Submitted genomic241,779,697-241,813,067

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6715509	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	241,779,697	241,813,067
nsv6715509	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	242,719,112	242,754,205

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18462838	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
nssv18462838	Submitted genomic		NC_000002.12:g.241 779697_241813067de l	GRCh38 (hg38)		NC_000002.12	Chr2	241,779,697	241,813,067
nssv18462838	Remapped	Pass	NC_000002.11:g.242 719112_242754205de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	242,719,112	242,754,205

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)
nssv18462838	4e-06	1	276010

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