A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706820



Internal ID130486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2775178..2775256hg38UCSC Ensembl
chr16:2825179..2825257hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525330
Supporting Variants
Samples
Known GenesTCEB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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