A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185926



Internal ID20752966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20377354..20478821hg38UCSC Ensembl
chr12:20530288..20631755hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38101468
hg19101468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460703
Supporting Variants
Samples
Known GenesPDE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185926
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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