A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504428



Internal ID281231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58740042..58748323hg38UCSC Ensembl
chr12:59133824..59142105hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388282
hg198282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683951
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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