A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555248



Internal ID15995971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67141279..67148143hg38UCSC Ensembl
Innerchr11:66908750..66915614hg19UCSC Ensembl
Innerchr11:66665326..66672190hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg386865
hg196865
hg186865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1976n54
Supporting Variantsnssv778560
Samples
Known GenesKDM2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555248
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