A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498428



Internal ID275418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27130650..27643000hg38UCSC Ensembl
chr12:27283583..27795933hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38512351
hg19512351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055517
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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