A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6481491



Internal ID21139044
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 StatusM
Merged Variants
Supporting Variantsnssv18182758
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6481491
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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