A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21094



Internal ID15481898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54124728..54126094hg38UCSC Ensembl
Outerchr13:54123595..54126896hg38UCSC Ensembl
Innerchr13:54698863..54700229hg19UCSC Ensembl
Outerchr13:54697730..54701031hg19UCSC Ensembl
Innerchr13:53596864..53598230hg18UCSC Ensembl
Outerchr13:53595731..53599032hg18UCSC Ensembl
Innerchr13:53596864..53598230hg17UCSC Ensembl
Outerchr13:53595731..53599032hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383302
hg193302
hg183302
hg173302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9071
Supporting Variants
SamplesNA10839
Known GenesLINC00458
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)nssv21094
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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