A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689290



Internal ID112956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76822748..76822843hg38UCSC Ensembl
chr12:77216528..77216623hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504883
Supporting Variants
Samples
Known GenesZDHHC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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