A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13068



Internal ID15489791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:677765..913682hg38UCSC Ensembl
Outerchr5:676730..914240hg38UCSC Ensembl
Innerchr5:677880..913797hg19UCSC Ensembl
Outerchr5:676845..914355hg19UCSC Ensembl
Innerchr5:730880..966797hg18UCSC Ensembl
Outerchr5:729845..967355hg18UCSC Ensembl
Innerchr5:730880..966797hg17UCSC Ensembl
Outerchr5:729845..967355hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38237511
hg19237511
hg18237511
hg17237511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18564
Known GenesBRD9, TPPP, TRIP13, 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)nssv13068
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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