A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497348



Internal ID274387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125239646..125239723hg38UCSC Ensembl
chr11:125109542..125109619hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053420
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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