A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494058



Internal ID271217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67069607..67069980hg38UCSC Ensembl
chr11:66837078..66837451hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047610
Samples
Known GenesRHOD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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