A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504665



Internal ID281463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126364141..126381682hg38UCSC Ensembl
chr11:126234036..126251577hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3817542
hg1917542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053504
Samples
Known GenesST3GAL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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