A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18782



Internal ID15480957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3024956..3195458hg38UCSC Ensembl
Outerchr11:2971449..3198655hg38UCSC Ensembl
Innerchr11:3046186..3216688hg19UCSC Ensembl
Outerchr11:2992679..3219885hg19UCSC Ensembl
Innerchr11:3002762..3173264hg18UCSC Ensembl
Outerchr11:2949255..3176461hg18UCSC Ensembl
Innerchr11:3002762..3173264hg17UCSC Ensembl
Outerchr11:2949255..3176461hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38227207
hg19227207
hg18227207
hg17227207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8766
Supporting Variants
SamplesNA07029
Known GenesCARS, NAP1L4, OSBPL5
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)nssv18782
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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