A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23879



Internal ID15833712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:85094931..85095507hg38UCSC Ensembl
Outerchr14:85093957..85098204hg38UCSC Ensembl
Innerchr14:85561275..85561851hg19UCSC Ensembl
Outerchr14:85560301..85564548hg19UCSC Ensembl
Innerchr14:84631028..84631604hg18UCSC Ensembl
Outerchr14:84630054..84634301hg18UCSC Ensembl
Innerchr14:84631028..84631604hg17UCSC Ensembl
Outerchr14:84630054..84634301hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg384248
hg194248
hg184248
hg174248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9160
Supporting Variants
SamplesNA18504
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)nssv23879
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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