A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050419



Internal ID101503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117325028..117356143hg38UCSC Ensembl
chr11:117195744..117226859hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3831116
hg1931116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508510
Supporting Variants
Samples
Known GenesCEP164
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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