A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555401



Internal ID16342810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71200067..71383335hg38UCSC Ensembl
Innerchr11:70911113..71094381hg19UCSC Ensembl
Innerchr11:70588761..70772029hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38183269
hg19183269
hg18183269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778984
Samples
Known GenesSHANK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555401
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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