A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13079



Internal ID15843457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167888913..168070832hg38UCSC Ensembl
Outerchr4:167888209..168074146hg38UCSC Ensembl
Innerchr4:168810064..168991983hg19UCSC Ensembl
Outerchr4:168809360..168995297hg19UCSC Ensembl
Innerchr4:169046639..169228558hg18UCSC Ensembl
Outerchr4:169045935..169231872hg18UCSC Ensembl
Innerchr4:169184794..169366713hg17UCSC Ensembl
Outerchr4:169184090..169370027hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38185938
hg19185938
hg18185938
hg17185938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10608
Supporting Variants
SamplesNA19173
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)nssv13079
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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