A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13296



Internal ID15482746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70128569..70132421hg38UCSC Ensembl
Outerchr5:70128046..70132736hg38UCSC Ensembl
Innerchr5:69424396..69428248hg19UCSC Ensembl
Outerchr5:69423873..69428563hg19UCSC Ensembl
Innerchr5:69460152..69464004hg18UCSC Ensembl
Outerchr5:69459629..69464319hg18UCSC Ensembl
Innerchr5:69460152..69464004hg17UCSC Ensembl
Outerchr5:69459629..69464319hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384691
hg194691
hg184691
hg174691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13296
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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