A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508255



Internal ID284950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64499388..64563470hg38UCSC Ensembl
chr12:64893168..64957250hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3864083
hg1964083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688616
Samples
Known GenesTBK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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