A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980468



Internal ID21889811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101253192..101253787hg38UCSC Ensembl
chr1:101718748..101719343hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521279
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980468
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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