A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045751



Internal ID98264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46752500..46757500hg38UCSC Ensembl
chr11:46774050..46779050hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512954
Supporting Variants
Samples
Known GenesCKAP5, MIR5582
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001301


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