A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181981



Internal ID20749021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111983135..112005716hg38UCSC Ensembl
chr12:112420939..112443520hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3822582
hg1922582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495097
Supporting Variants
Samples
Known GenesTMEM116
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181981
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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