A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13394



Internal ID15834497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69261793..69262102hg38UCSC Ensembl
Outerchr4:69261717..69262989hg38UCSC Ensembl
Innerchr4:70127511..70127820hg19UCSC Ensembl
Outerchr4:70127435..70128707hg19UCSC Ensembl
Innerchr4:70162100..70162409hg18UCSC Ensembl
Outerchr4:70162024..70163296hg18UCSC Ensembl
Innerchr4:70308271..70308580hg17UCSC Ensembl
Outerchr4:70308195..70309467hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381273
hg191273
hg181273
hg171273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA18517
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)nssv13394
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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