A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684078



Internal ID107744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92022257..92022321hg38UCSC Ensembl
chr12:92416033..92416097hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506617
Supporting Variants
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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