A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685050



Internal ID108716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121976899..121977909hg38UCSC Ensembl
chr12:122414805..122415815hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144177
Supporting Variants
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685050
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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