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dbVar

Database of genomic structural variation

nsv6946838

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:515,089

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: 1682 SVs from 95 studies. See in: genome view

Submitted genomic42,788,976-43,304,064

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6946838	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	42,788,976	43,304,064
nsv6946838	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	43,363,112	43,878,200

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18604251	duplication	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
nssv18604251	Submitted genomic		NC_000013.11:g.427 88976_43304064dup	GRCh38 (hg38)		NC_000013.11	Chr13	42,788,976	43,304,064
nssv18604251	Remapped	Perfect	NC_000013.10:g.433 63112_43878200dup	GRCh37.p13	First Pass	NC_000013.10	Chr13	43,363,112	43,878,200

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)
nssv18604251	7e-06	2	275226

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