A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731266



Internal ID154932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16737619..16737670hg38UCSC Ensembl
chr20:16718264..16718315hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533905
Supporting Variants
Samples
Known GenesSNRPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731266
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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