A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112273



Internal ID21295539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42479259..42481994hg38UCSC Ensembl
Innerchr12:42873061..42875796hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382736
hg192736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092392
Samplessample231
Known GenesPRICKLE1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112273
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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