A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24440



Internal ID15832776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18591020..19048966hg38UCSC Ensembl
Outerchr14:18590966..19050665hg38UCSC Ensembl
Innerchr14:19367497..19636650hg19UCSC Ensembl
Outerchr14:19367443..19638347hg19UCSC Ensembl
Innerchr14:18437497..18706650hg18UCSC Ensembl
Outerchr14:18437443..18708347hg18UCSC Ensembl
Innerchr14:18437497..18706650hg17UCSC Ensembl
Outerchr14:18437443..18708347hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38459700
hg19270905
hg18270905
hg17270905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18502
Known GenesLOC642426, OR11H12, POTEG
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)nssv24440
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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