A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv889083



Internal ID6296094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117212723..117252874hg19UCSC Ensembl
Outerchr7:117203417..117256374hg19UCSC Ensembl
Innerchr7:116999959..117040110hg18UCSC Ensembl
Outerchr7:116990653..117043610hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1597073
SamplesIS40729
Known GenesCFTR
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv889083
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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