A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509709



Internal ID286357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92116508..92143103hg38UCSC Ensembl
chr12:92510284..92536879hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3826596
hg1926596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684084
Samples
Known GenesBTG1, C12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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