A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993998



Internal ID21903341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81554863..81565508hg38UCSC Ensembl
chr3:81604014..81614659hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3810646
hg1910646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548441
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993998
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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