A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17072940



Internal ID21412846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125178593..125178593hg38UCSC Ensembl
chr11:125048489..125048489hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659672
Supporting Variants
SamplesHG00513
Known GenesPKNOX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17072940
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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