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dbVar

Database of genomic structural variation

nsv7007304

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:21,252

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: 180 SVs from 24 studies. See in: genome view

Submitted genomic34,547,099-34,568,350

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7007304	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	34,547,099	34,568,350
nsv7007304	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	32,127,063	32,148,314

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18416990	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
nssv18416990	Submitted genomic		NC_000018.10:g.345 47099_34568350del	GRCh38 (hg38)		NC_000018.10	Chr18	34,547,099	34,568,350
nssv18416990	Remapped	Perfect	NC_000018.9:g.3212 7063_32148314del	GRCh37.p13	First Pass	NC_000018.9	Chr18	32,127,063	32,148,314

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)
nssv18416990	1.1e-05	3	276216

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