A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501113



Internal ID278024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134281900..134345000hg38UCSC Ensembl
chr11:134151794..134214894hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3863101
hg1963101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051784
Samples
Known GenesGLB1L2, GLB1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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