A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183



Internal ID15827838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:66930800..67303623hg38UCSC Ensembl
Outerchr9:66930405..67305028hg38UCSC Ensembl
Innerchr9:40090569..40491324hg17UCSC Ensembl
Outerchr9:40089166..40491719hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38374624
hg17402554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA07048
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv18183
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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