A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988238



Internal ID59580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83050823..83050826hg38UCSC Ensembl
chr6:83760542..83760545hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535000
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988238
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022323


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