A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8469



Internal ID5111700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155183945..155204572hg19UCSC Ensembl
Outerchr1:153450569..153471196hg18UCSC Ensembl
Outerchr1:151997018..152017645hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count25
Merged StatusS
Merged Variants
Supporting Variantsnssv26194
SamplesNA19173
Known GenesGBA, GBAP1
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)nsv8469
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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