A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985603



Internal ID21894946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119659504..119660868hg38UCSC Ensembl
chr2:120417080..120418444hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519117
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985603
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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