A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21228



Internal ID15836502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19191547..19198992hg38UCSC Ensembl
Outerchr14:19185134..19199396hg38UCSC Ensembl
Innerchr14:19788714..19796159hg19UCSC Ensembl
Outerchr14:19788310..19802572hg19UCSC Ensembl
Innerchr14:18858714..18866159hg18UCSC Ensembl
Outerchr14:18858310..18872572hg18UCSC Ensembl
Innerchr14:18858714..18866159hg17UCSC Ensembl
Outerchr14:18858310..18872572hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3814263
hg1914263
hg1814263
hg1714263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18564
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)nssv21228
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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