nsv6779975 - dbVar Variant - NCBI

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nsv6779975

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:175,499

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: 585 SVs from 74 studies. See in: genome view

Submitted genomic26,174,832-26,350,330

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6779975	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	26,174,832	26,350,330
nsv6779975	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	26,175,060	26,350,558

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18714056	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
nssv18714056	Submitted genomic		NC_000006.12:g.261 74832_26350330dup	GRCh38 (hg38)		NC_000006.12	Chr6	26,174,832	26,350,330
nssv18714056	Remapped	Perfect	NC_000006.11:g.261 75060_26350558dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	26,175,060	26,350,558

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)
nssv18714056	4e-06	1	267400

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