A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554202



Internal ID15994925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46312688..46448350hg38UCSC Ensembl
Innerchr11:46334239..46469900hg19UCSC Ensembl
Innerchr11:46290815..46426476hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38135663
hg19135662
hg18135662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv772794
Samples
Known GenesAMBRA1, CHRM4, CREB3L1, DGKZ, MDK, MIR4688
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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