A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556515



Internal ID15997238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125206408..125215292hg38UCSC Ensembl
Innerchr11:125076304..125085188hg19UCSC Ensembl
Innerchr11:124581514..124590398hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg388885
hg198885
hg188885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n54
Supporting Variantsnssv784694, nssv784696, nssv784695, nssv784693, nssv784697
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556515
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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