A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052640



Internal ID102947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129196129..129196180hg38UCSC Ensembl
chr11:129066024..129066075hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424420
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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