A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462490



Internal ID240418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161567720..162085660hg38UCSC Ensembl
chr6:161988752..162506692hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38517941
hg19517941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991144
Samples
Known GenesPARK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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