A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22448



Internal ID15830733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103784644..103785184hg38UCSC Ensembl
Outerchr14:103783923..103785848hg38UCSC Ensembl
Innerchr14:104250981..104251521hg19UCSC Ensembl
Outerchr14:104250260..104252185hg19UCSC Ensembl
Innerchr14:103320734..103321274hg18UCSC Ensembl
Outerchr14:103320013..103321938hg18UCSC Ensembl
Innerchr14:103320734..103321274hg17UCSC Ensembl
Outerchr14:103320013..103321938hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381926
hg191926
hg181926
hg171926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9172
Supporting Variants
SamplesNA12155
Known GenesPPP1R13B
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)nssv22448
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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