A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439894



Internal ID218420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33402672..33417934hg38UCSC Ensembl
chr2:33627739..33643001hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3815263
hg1915263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912348
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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