A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv783714



Internal ID15730984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106916750..106918688hg38UCSC Ensembl
Innerchr11:106787476..106789414hg19UCSC Ensembl
Innerchr11:106292686..106294624hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381939
hg191939
hg181939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556275
Supporting Variants
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv783714
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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