A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111270



Internal ID21294536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41384306..41423973hg38UCSC Ensembl
Innerchr12:41778108..41817775hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3839668
hg1939668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14090382, nssv14091309
Samplessample209, sample17
Known GenesPDZRN4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111270
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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