A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13958



Internal ID15484259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:676730..816978hg38UCSC Ensembl
Outerchr5:676170..817629hg38UCSC Ensembl
Innerchr5:676845..817093hg19UCSC Ensembl
Outerchr5:676285..817744hg19UCSC Ensembl
Innerchr5:729845..870093hg18UCSC Ensembl
Outerchr5:729285..870744hg18UCSC Ensembl
Innerchr5:729845..870093hg17UCSC Ensembl
Outerchr5:729285..870744hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38141460
hg19141460
hg18141460
hg17141460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA12155
Known GenesTPPP, ZDHHC11
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)nssv13958
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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