A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556233



Internal ID15996956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106914413..106917083hg38UCSC Ensembl
Innerchr11:106785139..106787809hg19UCSC Ensembl
Innerchr11:106290349..106293019hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382671
hg192671
hg182671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2154n54
Supporting Variantsnssv783388
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556233
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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