A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556240



Internal ID15996963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915702..106917261hg38UCSC Ensembl
Innerchr11:106786428..106787987hg19UCSC Ensembl
Innerchr11:106291638..106293197hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381560
hg191560
hg181560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2157n54
Supporting Variantsnssv783431, nssv783432, nssv783430
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556240
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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