A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556276



Internal ID15996999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106916750..106918766hg38UCSC Ensembl
Innerchr11:106787476..106789492hg19UCSC Ensembl
Innerchr11:106292686..106294702hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382017
hg192017
hg182017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2160n54
Supporting Variantsnssv783718, nssv783716, nssv783719, nssv783715, nssv783717
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556276
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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