A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212280



Internal ID20779320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57622050..57626648hg38UCSC Ensembl
chr3:57607777..57612375hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg384599
hg194599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6359558
Supporting Variants
Samples
Known GenesDENND6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212280
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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