A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552693



Internal ID15993416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133444643..133536297hg38UCSC Ensembl
Innerchr10:135258147..135349801hg19UCSC Ensembl
Innerchr10:135108137..135199791hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3891655
hg1991655
hg1891655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n54
Supporting Variantsnssv1175029
SamplesHGDP00891
Known GenesCYP2E1, SCART1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552693
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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