A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052487



Internal ID102840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113861263..113861313hg38UCSC Ensembl
chr11:113731985..113732035hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558865
Supporting Variants
Samples
Known GenesUSP28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052487
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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