A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21226



Internal ID15488843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73535372..73539038hg38UCSC Ensembl
Outerchr14:73532290..73539880hg38UCSC Ensembl
Innerchr14:74002076..74005742hg19UCSC Ensembl
Outerchr14:73998994..74006584hg19UCSC Ensembl
Innerchr14:73071829..73075495hg18UCSC Ensembl
Outerchr14:73068747..73076337hg18UCSC Ensembl
Innerchr14:73071829..73075495hg17UCSC Ensembl
Outerchr14:73068747..73076337hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387591
hg197591
hg187591
hg177591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18552
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)nssv21226
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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