A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763578



Internal ID20539438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83050821..83050821hg38UCSC Ensembl
chr6:83760540..83760540hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262945
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763578
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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