A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552651



Internal ID16340060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133404452..133620799hg38UCSC Ensembl
Innerchr10:135217956..135434303hg19UCSC Ensembl
Innerchr10:135067946..135284293hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38216348
hg19216348
hg18216348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1486n54
Supporting Variantsnssv1175021
SamplesHGDP00812
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552651
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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