A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9124



Internal ID15847036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23955502..24005567hg38UCSC Ensembl
Outerchr14:24424711..24474776hg19UCSC Ensembl
Outerchr14:23494551..23544616hg18UCSC Ensembl
Outerchr14:23494551..23544616hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3850066
hg1950066
hg1850066
hg1750066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21056
SamplesNA19007
Known GenesDHRS4, DHRS4L2
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)nsv9124
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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