A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555250



Internal ID15995973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67141279..67149205hg38UCSC Ensembl
Innerchr11:66908750..66916676hg19UCSC Ensembl
Innerchr11:66665326..66673252hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg387927
hg197927
hg187927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1976n54
Supporting Variantsnssv778563, nssv778562
Samples
Known GenesKDM2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555250
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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