A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210025



Internal ID20777065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55047901..55049600hg38UCSC Ensembl
chr3:55081928..55083627hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6362613
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210025
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00063


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