A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17540152



Internal ID21864507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184366418..184366619hg38UCSC Ensembl
chr3:184084206..184084407hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5992407
Supporting Variants
Samples
Known GenesPOLR2H
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17540152
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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