A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556238



Internal ID15996961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915702..106917031hg38UCSC Ensembl
Innerchr11:106786428..106787757hg19UCSC Ensembl
Innerchr11:106291638..106292967hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381330
hg191330
hg181330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2157n54
Supporting Variantsnssv783424, nssv783419, nssv783425, nssv783426, nssv783420, nssv783422, nssv783423, nssv783421
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556238
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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