A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24998



Internal ID15837959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19640585..19756005hg38UCSC Ensembl
Outerchr14:19639095..19756868hg38UCSC Ensembl
Innerchr14:20108819..20224164hg19UCSC Ensembl
Outerchr14:20107329..20225027hg19UCSC Ensembl
Innerchr14:19178584..19294004hg18UCSC Ensembl
Outerchr14:19177094..19294867hg18UCSC Ensembl
Innerchr14:19178584..19294004hg17UCSC Ensembl
Outerchr14:19177094..19294867hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38117774
hg19117699
hg18117774
hg17117774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18860
Known GenesOR11H2, OR4Q3
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)nssv24998
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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