A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189886



Internal ID20756926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66157901..66184100hg38UCSC Ensembl
chr12:66551681..66577880hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3826200
hg1926200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462793
Supporting Variants
Samples
Known GenesTMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189886
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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