A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556132



Internal ID15996855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101397716..101460076hg38UCSC Ensembl
Innerchr11:101268447..101330807hg19UCSC Ensembl
Innerchr11:100773657..100836017hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3862361
hg1962361
hg1862361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174946
SamplesHGDP01198
Known GenesTRPC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556132
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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