A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986353



Internal ID21895696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127898602..127901179hg38UCSC Ensembl
chr2:128656176..128658753hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532438
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986353
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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