A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555247



Internal ID15995970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67141279..67147190hg38UCSC Ensembl
Innerchr11:66908750..66914661hg19UCSC Ensembl
Innerchr11:66665326..66671237hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg385912
hg195912
hg185912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1976n54
Supporting Variantsnssv778559
Samples
Known GenesKDM2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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