A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494063



Internal ID271222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19321731..19515854hg38UCSC Ensembl
chr12:19474665..19668788hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38194124
hg19194124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056171
Samples
Known GenesAEBP2, PLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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