A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12520



Internal ID15484924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70365046..70366818hg38UCSC Ensembl
Outerchr5:70364583..70366889hg38UCSC Ensembl
Innerchr5:69660873..69662645hg19UCSC Ensembl
Outerchr5:69660410..69662716hg19UCSC Ensembl
Innerchr5:69696629..69698401hg18UCSC Ensembl
Outerchr5:69696166..69698472hg18UCSC Ensembl
Innerchr5:69696629..69698401hg17UCSC Ensembl
Outerchr5:69696166..69698472hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382307
hg192307
hg182307
hg172307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12802
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)nssv12520
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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