A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185650



Internal ID20752690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41179001..41192400hg38UCSC Ensembl
chr12:41572803..41586202hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813400
hg1913400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474896
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185650
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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