A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2783379



Internal ID15302894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11021632..11022622hg38UCSC Ensembl
Innerchr12:11174231..11175221hg19UCSC Ensembl
Innerchr12:11065498..11066488hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514646
Supporting Variants
SamplesNA12812
Known GenesPRH1-PRR4, TAS2R19
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2783379
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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