A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060469



Internal ID18803000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39076588..39134150hg38UCSC Ensembl
Innerchr19:39567228..39624790hg19UCSC Ensembl
Innerchr19:44259068..44316630hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3857563
hg1957563
hg1857563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3528n100
Supporting Variantsnssv3568205
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)nsv1060469
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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