A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553912



Internal ID15994635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:26992485..27219404hg38UCSC Ensembl
Innerchr11:27014032..27240951hg19UCSC Ensembl
Innerchr11:26970608..27197527hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38226920
hg19226920
hg18226920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1727n54
Supporting Variantsnssv769277
Samples
Known GenesBBOX1, FIBIN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553912
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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