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dbVar

Database of genomic structural variation

nsv5456374

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:344

Publication(s):Byrska-Bishop et al. 2022

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: 122 SVs from 18 studies. See in: genome view

Submitted genomic13,307,588-13,307,931

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5456374	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	13,307,588	13,307,931
nsv5456374	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	13,307,820	13,308,163

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16979661	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16979661	Submitted genomic		NC_000006.12:g.133 07588_13307931dup	GRCh38 (hg38)		NC_000006.12	Chr6	13,307,588	13,307,931
nssv16979661	Remapped	Perfect	NC_000006.11:g.133 07820_13308163dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	13,307,820	13,308,163

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)
nssv16979661	<0.001	6	6404

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