A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054535



Internal ID104194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132954138..133398753hg38UCSC Ensembl
chr11:132824033..133268648hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38444616
hg19444616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510879
Supporting Variants
Samples
Known GenesOPCML
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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