A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193337



Internal ID20760377
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 StatusS
Merged Variantsnsv6460433
Supporting Variants
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193337
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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