A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8532



Internal ID5112102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:84210306..84212600hg19UCSC Ensembl
Outerchr9:83400126..83402420hg18UCSC Ensembl
Outerchr9:81439860..81442154hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count3
Merged StatusS
Merged Variants
Supporting Variantsnssv18809
SamplesNA19173
Known GenesTLE1
Method
AnalysisCNV regions were defined on the basis of the union of all overlapping CNVs across all 30 HapMap individuals (An additional CNV region, that was not listed in the original published dataset, has been defined to represent variant 311 in sample NA18563).
PlatformAgilent-015685 + 015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry et al 2008
Pubmed ID18304495
Accession Number(s)nsv8532
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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