A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496483



Internal ID273558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11944547..11969111hg38UCSC Ensembl
chr11:11966094..11990658hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3824565
hg1924565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042860
Samples
Known GenesDKK3, USP47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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