A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685053



Internal ID108719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121979682..121993232hg38UCSC Ensembl
chr12:122417588..122431138hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813551
hg1913551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509820
Supporting Variants
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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