A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19882



Internal ID15492344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73535372..73539880hg38UCSC Ensembl
Outerchr14:73532290..73541704hg38UCSC Ensembl
Innerchr14:74002076..74006584hg19UCSC Ensembl
Outerchr14:73998994..74008408hg19UCSC Ensembl
Innerchr14:73071829..73076337hg18UCSC Ensembl
Outerchr14:73068747..73078161hg18UCSC Ensembl
Innerchr14:73071829..73076337hg17UCSC Ensembl
Outerchr14:73068747..73078161hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg389415
hg199415
hg189415
hg179415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18942
Known GenesACOT1, HEATR4
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)nssv19882
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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