A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469509



Internal ID247293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173412505..173412569hg38UCSC Ensembl
chr5:172839508..172839572hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978686
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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