A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467392



Internal ID21124945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3272176..3485681hg38UCSC Ensembl
chr12:3381342..3594847hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38213506
hg19213506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182698
Samples
Known GenesPRMT8, TSPAN9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467392
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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