A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441894



Internal ID220344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58247856..58291936hg38UCSC Ensembl
chr2:58474991..58519071hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3844081
hg1944081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913554
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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