A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556047



Internal ID16343456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99062433..99163429hg38UCSC Ensembl
Innerchr11:98933163..99034160hg19UCSC Ensembl
Innerchr11:98438373..98539370hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38100997
hg19100998
hg18100998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174925
SamplesHGDP00474
Known GenesCNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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