A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210314



Internal ID20777354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128811001..128813100hg38UCSC Ensembl
chr4:129732156..129734255hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6388127
Supporting Variants
Samples
Known GenesJADE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210314
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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