A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556505



Internal ID15997228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125206261..125210799hg38UCSC Ensembl
Innerchr11:125076157..125080695hg19UCSC Ensembl
Innerchr11:124581367..124585905hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384539
hg194539
hg184539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2188n54
Supporting Variantsnssv784679
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556505
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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