A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501186



Internal ID278094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1212145..1279508hg38UCSC Ensembl
chr11:1233375..1300738hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3867364
hg1967364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042030
Samples
Known GenesMIR6744, MUC5B, TOLLIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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