A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv871171



Internal ID6278182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89265248..89302955hg19UCSC Ensembl
Outerchr1:89257378..89306817hg19UCSC Ensembl
Innerchr1:89037836..89075543hg18UCSC Ensembl
Outerchr1:89029966..89079405hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499972
SamplesSP50119
Known GenesPKN2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv871171
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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