A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578269



Internal ID16018992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1222317..1245701hg38UCSC Ensembl
Innerchr19:1222316..1245700hg19UCSC Ensembl
Innerchr19:1173316..1196700hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823385
hg1923385
hg1823385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6196n54
Supporting Variantsnssv891771
Samples
Known GenesATP5D, C19orf26, STK11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578269
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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