A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20724



Internal ID15840371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19758513..19758929hg38UCSC Ensembl
Outerchr14:19757758..19759367hg38UCSC Ensembl
Innerchr14:20226672..20227088hg19UCSC Ensembl
Outerchr14:20225917..20227526hg19UCSC Ensembl
Innerchr14:19296512..19296928hg18UCSC Ensembl
Outerchr14:19295757..19297366hg18UCSC Ensembl
Innerchr14:19296512..19296928hg17UCSC Ensembl
Outerchr14:19295757..19297366hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381610
hg191610
hg181610
hg171610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18975
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)nssv20724
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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