A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17613738



Internal ID21805785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92022254..92022254hg38UCSC Ensembl
chr12:92416030..92416030hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6097976
Supporting Variants
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17613738
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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