A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556495



Internal ID15997218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205679..125215102hg38UCSC Ensembl
Innerchr11:125075575..125084998hg19UCSC Ensembl
Innerchr11:124580785..124590208hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg389424
hg199424
hg189424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n54
Supporting Variantsnssv784659, nssv784658
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556495
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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