A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512121



Internal ID288688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120432647..120451450hg38UCSC Ensembl
chr12:120870450..120889253hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818804
hg1918804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684905
Samples
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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