A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20934



Internal ID15493602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103222998..103372598hg38UCSC Ensembl
Outerchr14:103065392..103446969hg38UCSC Ensembl
Innerchr14:103689335..103838935hg19UCSC Ensembl
Outerchr14:103531729..103913306hg19UCSC Ensembl
Innerchr14:102759088..102908688hg18UCSC Ensembl
Outerchr14:102601482..102983059hg18UCSC Ensembl
Innerchr14:102759088..102908688hg17UCSC Ensembl
Outerchr14:102601482..102983059hg17UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38381578
hg19381578
hg18381578
hg17381578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9168
Supporting Variants
SamplesNA18975
Known GenesEIF5, EXOC3L4, LINC00605, MARK3, SNORA28, TNFAIP2
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)nssv20934
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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