A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050416



Internal ID101500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117310673..117329839hg38UCSC Ensembl
chr11:117181389..117200555hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3819167
hg1919167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513562
Supporting Variants
Samples
Known GenesBACE1, CEP164
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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