A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556590



Internal ID15997313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132949989..133394114hg38UCSC Ensembl
Innerchr11:132819884..133264009hg19UCSC Ensembl
Innerchr11:132325094..132769219hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38444126
hg19444126
hg18444126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2203n54
Supporting Variantsnssv785135
Samples
Known GenesOPCML
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556590
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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