A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047802



Internal ID99728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60344101..60344152hg38UCSC Ensembl
chr11:60111574..60111625hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400568
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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