A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556229



Internal ID15996952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106696291..106711896hg38UCSC Ensembl
Innerchr11:106567017..106582622hg19UCSC Ensembl
Innerchr11:106072227..106087832hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3815606
hg1915606
hg1815606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv783384
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556229
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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