A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24494



Internal ID15834107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19191547..19206882hg38UCSC Ensembl
Outerchr14:19185134..19207534hg38UCSC Ensembl
Innerchr14:19780824..19796159hg19UCSC Ensembl
Outerchr14:19780172..19802572hg19UCSC Ensembl
Innerchr14:18850824..18866159hg18UCSC Ensembl
Outerchr14:18850172..18872572hg18UCSC Ensembl
Innerchr14:18850824..18866159hg17UCSC Ensembl
Outerchr14:18850172..18872572hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3822401
hg1922401
hg1822401
hg1722401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18517
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)nssv24494
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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