A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539593



Internal ID314518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85917220..85917231hg38UCSC Ensembl
chr11:85628263..85628274hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049615
Samples
Known GenesCCDC83
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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