A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544069



Internal ID318259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82912053..82912090hg38UCSC Ensembl
chr6:83621772..83621809hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988225
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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