A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504279



Internal ID281086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91155495..91155593hg38UCSC Ensembl
chr12:91549272..91549370hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689987
Samples
Known GenesDCN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504279
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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