A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv890705



Internal ID6297716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30854392..30956430hg19UCSC Ensembl
Outerchr8:30849740..30964211hg19UCSC Ensembl
Innerchr8:30973934..31075972hg18UCSC Ensembl
Outerchr8:30969282..31083753hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1550418
SamplesMS18431
Known GenesPURG, WRN
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv890705
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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