A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067028



Internal ID18809559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39076588..39132206hg38UCSC Ensembl
Innerchr19:39567228..39622846hg19UCSC Ensembl
Innerchr19:44259068..44314686hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3855619
hg1955619
hg1855619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3528n100
Supporting Variantsnssv3568204
Samples
Known GenesPAK4, PAPL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067028
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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