A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13803



Internal ID15481382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70628386..70645477hg38UCSC Ensembl
Outerchr5:70627614..70645743hg38UCSC Ensembl
Innerchr5:69924213..69941304hg19UCSC Ensembl
Outerchr5:69923441..69941570hg19UCSC Ensembl
Innerchr5:69959969..69977060hg18UCSC Ensembl
Outerchr5:69959197..69977326hg18UCSC Ensembl
Innerchr5:69959969..69977060hg17UCSC Ensembl
Outerchr5:69959197..69977326hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3818130
hg1918130
hg1818130
hg1718130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
Known Genes
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)nssv13803
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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