A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993199



Internal ID21902542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32243435..32244001hg38UCSC Ensembl
chr3:32284927..32285493hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544916
Samples
Known GenesCMTM8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993199
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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