A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552688



Internal ID15993411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133442823..133556028hg38UCSC Ensembl
Innerchr10:135256327..135369532hg19UCSC Ensembl
Innerchr10:135106317..135219522hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38113206
hg19113206
hg18113206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n54
Supporting Variantsnssv762921
Samples
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552688
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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