A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988226



Internal ID59572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82934937..82934937hg38UCSC Ensembl
chr6:83644656..83644656hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538774
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.694454


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