A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180996



Internal ID20748036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55316801..55434800hg38UCSC Ensembl
chr12:55710585..55828584hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38118000
hg19118000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471131
Supporting Variants
Samples
Known GenesOR6C1, OR6C3, OR6C65, OR6C75, OR6C76
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180996
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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