A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578279



Internal ID16019002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1413575..1530061hg38UCSC Ensembl
Innerchr19:1413574..1530060hg19UCSC Ensembl
Innerchr19:1364574..1481060hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38116487
hg19116487
hg18116487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891784
Samples
Known GenesADAMTSL5, APC2, C19orf25, DAZAP1, PCSK4, PLK5, REEP6, RPS15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578279
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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