A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556121



Internal ID16343530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100017658..100064906hg38UCSC Ensembl
Innerchr11:99888390..99935638hg19UCSC Ensembl
Innerchr11:99393600..99440848hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3847249
hg1947249
hg1847249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174941
SamplesHGDP01262
Known GenesCNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556121
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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