A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460433



Internal ID21117986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79720385..79827748hg38UCSC Ensembl
chr12:80114165..80221528hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38107364
hg19107364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193337
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460433
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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