A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556492



Internal ID15997215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205679..125212325hg38UCSC Ensembl
Innerchr11:125075575..125082221hg19UCSC Ensembl
Innerchr11:124580785..124587431hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg386647
hg196647
hg186647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n54
Supporting Variantsnssv784654
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556492
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer