A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182758



Internal ID20749798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129318469..130000568hg38UCSC Ensembl
chr12:129803014..130485113hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38682100
hg19682100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481491
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182758
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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