A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685076



Internal ID108742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122212869..122214910hg38UCSC Ensembl
chr12:122697416..122699457hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506451
Supporting Variants
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685076
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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