A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469800



Internal ID21127353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32856511..32934243hg38UCSC Ensembl
chr12:33009445..33087177hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3877733
hg1977733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188852
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469800
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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