A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556133



Internal ID16343542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101527719..101562430hg38UCSC Ensembl
Innerchr11:101398450..101433161hg19UCSC Ensembl
Innerchr11:100903660..100938371hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3834712
hg1934712
hg1834712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2132n54
Supporting Variantsnssv781996
Samples
Known GenesTRPC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556133
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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