A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24466



Internal ID15832799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19055456..19059109hg38UCSC Ensembl
Outerchr14:19055205..19059265hg38UCSC Ensembl
Innerchr14:19643138..19646793hg19UCSC Ensembl
Outerchr14:19642887..19646949hg19UCSC Ensembl
Innerchr14:18713138..18716793hg18UCSC Ensembl
Outerchr14:18712887..18716949hg18UCSC Ensembl
Innerchr14:18713138..18716793hg17UCSC Ensembl
Outerchr14:18712887..18716949hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg384061
hg194063
hg184063
hg174063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18502
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)nssv24466
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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