A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564160



Internal ID16004883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29030900..29631166hg38UCSC Ensembl
Innerchr14:29500106..30100372hg19UCSC Ensembl
Innerchr14:28569857..29170123hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38600267
hg19600267
hg18600267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825110
Samples
Known GenesMIR548AI, PRKD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564160
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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