A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579508



Internal ID16020231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39043114..39137410hg38UCSC Ensembl
Innerchr19:39533754..39628050hg19UCSC Ensembl
Innerchr19:44225594..44319890hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3894297
hg1994297
hg1894297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149880
SamplesHGDP01348
Known GenesPAK4, PAPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579508
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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