A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978370



Internal ID52961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181096162..181169324hg38UCSC Ensembl
chr5:180523162..180596324hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3873163
hg1973163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466263
Supporting Variants
Samples
Known GenesOR2V1, OR2V2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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