A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760344



Internal ID20536204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82934942..82934942hg38UCSC Ensembl
chr6:83644661..83644661hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282486
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760344
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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