A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556231



Internal ID15996954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106866498..106945237hg38UCSC Ensembl
Innerchr11:106737224..106815963hg19UCSC Ensembl
Innerchr11:106242434..106321173hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3878740
hg1978740
hg1878740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv783386
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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