A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048726



Internal ID100360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:79998321..79998372hg38UCSC Ensembl
chr11:79709364..79709415hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405523
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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