A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462494



Internal ID21120047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18598401..18607400hg38UCSC Ensembl
chr12:18751335..18760334hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185960
Samples
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462494
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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