A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765500



Internal ID20541360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125178529..125178529hg38UCSC Ensembl
chr11:125048425..125048425hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279039
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765500
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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