A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564959



Internal ID16005682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66968465..66989369hg38UCSC Ensembl
Innerchr14:67435182..67456086hg19UCSC Ensembl
Innerchr14:66504935..66525839hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3820905
hg1920905
hg1820905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3735n54
Supporting Variantsnssv828624
Samples
Known GenesGPHN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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