A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556083



Internal ID16343492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99438277..99516086hg38UCSC Ensembl
Innerchr11:99309008..99386817hg19UCSC Ensembl
Innerchr11:98814218..98892027hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3877810
hg1977810
hg1877810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174930
Samples1780862459_A
Known GenesCNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556083
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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