A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047670



Internal ID99651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69041189..69049613hg38UCSC Ensembl
chr11:68808657..68817081hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg388425
hg198425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511599
Supporting Variants
Samples
Known GenesTPCN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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