A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13366



Internal ID15488792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70250215..70447740hg38UCSC Ensembl
Outerchr5:70249786..70448299hg38UCSC Ensembl
Innerchr5:69546042..69743567hg19UCSC Ensembl
Outerchr5:69545613..69744126hg19UCSC Ensembl
Innerchr5:69581798..69779323hg18UCSC Ensembl
Outerchr5:69581369..69779882hg18UCSC Ensembl
Innerchr5:69581798..69779323hg17UCSC Ensembl
Outerchr5:69581369..69779882hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38198514
hg19198514
hg18198514
hg17198514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, SMA4
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)nssv13366
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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