A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580110



Internal ID16020833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53961144..54093354hg38UCSC Ensembl
Innerchr19:54464398..54596619hg19UCSC Ensembl
Innerchr19:59156210..59288431hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38132211
hg19132222
hg18132222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150178
SamplesHGDP00080
Known GenesCACNG6, CACNG8, MIR935, TARM1, VSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580110
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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