A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504411



Internal ID281215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116857003..116857116hg38UCSC Ensembl
chr12:117294808..117294921hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684718
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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