A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504324



Internal ID281130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125520000..125536364hg38UCSC Ensembl
chr11:125389896..125406260hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3816365
hg1916365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053440
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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