A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555399



Internal ID15996122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:70851929..71158475hg38UCSC Ensembl
Innerchr11:70698034..70869521hg19UCSC Ensembl
Innerchr11:70375682..70547169hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38306547
hg19171488
hg18171488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778982
Samples
Known GenesMIR3664, SHANK2, SHANK2-AS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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