A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471618



Internal ID249348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117358132..117358206hg38UCSC Ensembl
chr6:117679295..117679369hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988834
Samples
Known GenesROS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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