A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9333



Internal ID5110128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2630427..2633966hg19UCSC Ensembl
Outerchr16:2570428..2573967hg18UCSC Ensembl
Outerchr16:2570428..2573967hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count8
Merged StatusS
Merged Variants
Supporting Variantsnssv22053
SamplesNA07048
Known GenesPDPK1
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)nsv9333
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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