A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578282



Internal ID16019005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1460836..1470585hg38UCSC Ensembl
Innerchr19:1460835..1470584hg19UCSC Ensembl
Innerchr19:1411835..1421584hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg389750
hg199750
hg189750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n54
Supporting Variantsnssv891788
Samples
Known GenesAPC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578282
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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