A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449285



Internal ID227526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79930258..80013651hg38UCSC Ensembl
chr2:80157384..80240777hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3883394
hg1983394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915791
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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