A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062163



Internal ID18804694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48040339..48075632hg38UCSC Ensembl
Innerchr19:48543596..48578889hg19UCSC Ensembl
Innerchr19:53235408..53270701hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3835294
hg1935294
hg1835294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3574938
Samples
Known GenesCABP5, PLA2G4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062163
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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