A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552729



Internal ID15993452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133538596..133591032hg38UCSC Ensembl
Innerchr10:135352100..135404536hg19UCSC Ensembl
Innerchr10:135202090..135254526hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3852437
hg1952437
hg1852437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175071
SamplesHGDP01091
Known GenesCYP2E1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552729
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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