A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554209



Internal ID15994932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47331947..47342576hg38UCSC Ensembl
Innerchr11:47353498..47364127hg19UCSC Ensembl
Innerchr11:47310074..47320703hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3810630
hg1910630
hg1810630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv773216
Samples
Known GenesMYBPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554209
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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