A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12905



Internal ID15482340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70035879..70040385hg38UCSC Ensembl
Outerchr5:70034788..70041374hg38UCSC Ensembl
Innerchr5:69331706..69336212hg19UCSC Ensembl
Outerchr5:69330615..69337201hg19UCSC Ensembl
Innerchr5:69367462..69371968hg18UCSC Ensembl
Outerchr5:69366371..69372957hg18UCSC Ensembl
Innerchr5:69367462..69371968hg17UCSC Ensembl
Outerchr5:69366371..69372957hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386587
hg196587
hg186587
hg176587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesSERF1A, SERF1B, SMA4
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)nssv12905
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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