A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989946



Internal ID21899289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5292080..5312989hg38UCSC Ensembl
chr2:5432213..5453122hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3820910
hg1920910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531549
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989946
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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