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dbVar

Database of genomic structural variation

nsv5469519

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:111

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

Submitted genomic436,392-436,502

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5469519	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	436,392	436,502
nsv5469519	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	476,375	476,485

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16992086	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16992086	Submitted genomic		NC_000007.14:g.436 392_436502del	GRCh38 (hg38)		NC_000007.14	Chr7	436,392	436,502
nssv16992086	Remapped	Perfect	NC_000007.13:g.476 375_476485del	GRCh37.p13	First Pass	NC_000007.13	Chr7	476,375	476,485

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)
nssv16992086	<0.001	3	6404

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