A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9071



Internal ID15500297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:54123595..54126896hg38UCSC Ensembl
Outerchr13:54697730..54701031hg19UCSC Ensembl
Outerchr13:53595731..53599032hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv24716, nssv21094
SamplesNA18860, NA10839
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)nsv9071
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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