A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578288



Internal ID16019011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1465133..1470585hg38UCSC Ensembl
Innerchr19:1465132..1470584hg19UCSC Ensembl
Innerchr19:1416132..1421584hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385453
hg195453
hg185453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6200n54
Supporting Variantsnssv891798, nssv891797, nssv891799
Samples
Known GenesAPC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578288
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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