A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052536



Internal ID102875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114404921..114405053hg38UCSC Ensembl
chr11:114275643..114275775hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510886
Supporting Variants
Samples
Known GenesRBM7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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