A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914965



Internal ID6276892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30088039..30111302hg19UCSC Ensembl
Outerchr22:30086144..30112226hg19UCSC Ensembl
Innerchr22:28418039..28441302hg18UCSC Ensembl
Outerchr22:28416144..28442226hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499438
SamplesSP50159
Known GenesNF2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914965
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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