A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512954



Internal ID289494
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 StatusM
Merged Variants
Supporting Variantsnssv17045751
Samples
Known GenesCKAP5, MIR5582
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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