A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111994



Internal ID21295260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328036..11390233hg38UCSC Ensembl
Innerchr12:11480970..11543167hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3862198
hg1962198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14091270
Samplessample197
Known GenesPRB1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111994
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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