A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362103



Internal ID22587772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125442923..125450216hg38UCSC Ensembl
chr11:125312819..125320112hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg387294
hg197294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918106
Supporting Variants
Samples
Known GenesFEZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362103
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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