A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19580



Internal ID15491003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3024956..3156693hg38UCSC Ensembl
Outerchr11:2971449..3195458hg38UCSC Ensembl
Innerchr11:3046186..3177923hg19UCSC Ensembl
Outerchr11:2992679..3216688hg19UCSC Ensembl
Innerchr11:3002762..3134499hg18UCSC Ensembl
Outerchr11:2949255..3173264hg18UCSC Ensembl
Innerchr11:3002762..3134499hg17UCSC Ensembl
Outerchr11:2949255..3173264hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38224010
hg19224010
hg18224010
hg17224010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8766
Supporting Variants
SamplesNA18853
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)nssv19580
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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