A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14091309



Internal ID21274608
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 StatusS
Merged Variantsnsv3111270
Supporting Variants
Samplessample209
Known GenesPDZRN4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14091309
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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