A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556247



Internal ID15996970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915702..106924401hg38UCSC Ensembl
Innerchr11:106786428..106795127hg19UCSC Ensembl
Innerchr11:106291638..106300337hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg388700
hg198700
hg188700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2156n54
Supporting Variantsnssv783615, nssv783613, nssv783616, nssv783614, nssv783612, nssv783617
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556247
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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