A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050460



Internal ID101529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120328630..120329110hg38UCSC Ensembl
chr11:120199339..120199819hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512789
Supporting Variants
Samples
Known GenesTMEM136
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.453949


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