A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23789



Internal ID15844332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18922423..19010054hg38UCSC Ensembl
Outerchr14:18922019..19010200hg38UCSC Ensembl
Innerchr14:19508183..19595967hg19UCSC Ensembl
Outerchr14:19507779..19596113hg19UCSC Ensembl
Innerchr14:18578183..18665967hg18UCSC Ensembl
Outerchr14:18577779..18666113hg18UCSC Ensembl
Innerchr14:18578183..18665967hg17UCSC Ensembl
Outerchr14:18577779..18666113hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3888182
hg1988335
hg1888335
hg1788335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19240
Known GenesPOTEG
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)nssv23789
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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