A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13353



Internal ID15481081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:783554..814864hg38UCSC Ensembl
Outerchr5:782280..816978hg38UCSC Ensembl
Innerchr5:783669..814979hg19UCSC Ensembl
Outerchr5:782395..817093hg19UCSC Ensembl
Innerchr5:836669..867979hg18UCSC Ensembl
Outerchr5:835395..870093hg18UCSC Ensembl
Innerchr5:836669..867979hg17UCSC Ensembl
Outerchr5:835395..870093hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3834699
hg1934699
hg1834699
hg1734699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA07048
Known GenesZDHHC11
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)nssv13353
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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