A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993000



Internal ID21902343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196696530..196700821hg38UCSC Ensembl
chr3:196423401..196427692hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384292
hg194292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556214
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993000
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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