A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489387



Internal ID21146940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131917001..131936400hg38UCSC Ensembl
chr12:132401546..132420945hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3819400
hg1919400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181915
Samples
Known GenesPUS1, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489387
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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