A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049186



Internal ID100679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:109182364..109190364hg38UCSC Ensembl
chr11:109053091..109061091hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497921
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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