A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433166



Internal ID22491036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48052415..48117096hg38UCSC Ensembl
chr8:48964975..49029656hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3864682
hg1964682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916741
Supporting Variants
Samples
Known GenesUBE2V2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433166
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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