A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181385



Internal ID20748425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41559001..41565100hg38UCSC Ensembl
chr12:41952803..41958902hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474243
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181385
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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