A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501294



Internal ID278196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12087480..12087591hg38UCSC Ensembl
chr12:12240414..12240525hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055929
Samples
Known GenesBCL2L14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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