A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504883



Internal ID281677
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 StatusM
Merged Variants
Supporting Variantsnssv17689290
Samples
Known GenesZDHHC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504883
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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