A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988222



Internal ID59569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82897764..82898052hg38UCSC Ensembl
chr6:83607483..83607771hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455392
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006248


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