A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498527



Internal ID275517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54095510..54098614hg38UCSC Ensembl
chr12:54489294..54492398hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383105
hg193105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057567
Samples
Known GenesFLJ12825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498527
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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