A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054488



Internal ID104160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132418408..132418459hg38UCSC Ensembl
chr11:132288302..132288353hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424489
Supporting Variants
Samples
Known GenesOPCML
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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