A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21056



Internal ID15841187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23956302..24005047hg38UCSC Ensembl
Outerchr14:23955502..24005567hg38UCSC Ensembl
Innerchr14:24425511..24474256hg19UCSC Ensembl
Outerchr14:24424711..24474776hg19UCSC Ensembl
Innerchr14:23495351..23544096hg18UCSC Ensembl
Outerchr14:23494551..23544616hg18UCSC Ensembl
Innerchr14:23495351..23544096hg17UCSC 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 StatusS
Merged Variantsnsv9124
Supporting Variants
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)nssv21056
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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