A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521719



Internal ID298004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67328379..67332457hg38UCSC Ensembl
chr16:67362282..67366360hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384079
hg194079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707494
Samples
Known GenesLRRC36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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