A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552653



Internal ID15993376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133412162..133556501hg38UCSC Ensembl
Innerchr10:135225666..135370005hg19UCSC Ensembl
Innerchr10:135075656..135219995hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38144340
hg19144340
hg18144340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1487n54
Supporting Variantsnssv1175023
SamplesHGDP00879
Known GenesCYP2E1, MTG1, SCART1, SPRN, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552653
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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