A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12965



Internal ID15482400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70156450..70157378hg38UCSC Ensembl
Outerchr5:70156090..70163183hg38UCSC Ensembl
Innerchr5:69452277..69453205hg19UCSC Ensembl
Outerchr5:69451917..69459010hg19UCSC Ensembl
Innerchr5:69488033..69488961hg18UCSC Ensembl
Outerchr5:69487673..69494766hg18UCSC Ensembl
Innerchr5:69488033..69488961hg17UCSC Ensembl
Outerchr5:69487673..69494766hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg387094
hg197094
hg187094
hg177094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesSMA4
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)nssv12965
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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