A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730752



Internal ID154418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8853166..9208542hg38UCSC Ensembl
chr20:8833813..9189189hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38355377
hg19355377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515701
Supporting Variants
Samples
Known GenesPLCB1, PLCB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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