A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552723



Internal ID15993446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133532689..133620261hg38UCSC Ensembl
Innerchr10:135346193..135433765hg19UCSC Ensembl
Innerchr10:135196183..135283755hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3887573
hg1987573
hg1887573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1496n54
Supporting Variantsnssv763000
Samples
Known GenesCYP2E1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552723
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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