A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24480



Internal ID15841765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19099161..19168669hg38UCSC Ensembl
Outerchr14:19099115..19168905hg38UCSC Ensembl
Innerchr14:19686843..19756790hg19UCSC Ensembl
Outerchr14:19686797..19757028hg19UCSC Ensembl
Innerchr14:18756843..18826790hg18UCSC Ensembl
Outerchr14:18756797..18827028hg18UCSC Ensembl
Innerchr14:18756843..18826790hg17UCSC Ensembl
Outerchr14:18756797..18827028hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3869791
hg1970232
hg1870232
hg1770232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19132
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)nssv24480
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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