A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556518



Internal ID15997241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125206754..125212228hg38UCSC Ensembl
Innerchr11:125076650..125082124hg19UCSC Ensembl
Innerchr11:124581860..124587334hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg385475
hg195475
hg185475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n54
Supporting Variantsnssv784700
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556518
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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