A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592741



Internal ID21541325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125493457..125493512hg38UCSC Ensembl
chr11:125363353..125363408hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17072775
SamplesHG03486
Known GenesFEZ1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592741
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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