A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493512



Internal ID270687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73779455..73781251hg38UCSC Ensembl
chr8:74691690..74693486hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381797
hg191797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012098
Samples
Known GenesUBE2W
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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