A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012098



Internal ID75736
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 StatusS
Merged Variantsnsv5493512
Supporting Variants
Samples
Known GenesUBE2W
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012098
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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