A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988233



Internal ID59577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83025505..83027435hg38UCSC Ensembl
chr6:83735224..83737154hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470307
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988233
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002506


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