A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13928



Internal ID15484265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:209115..209651hg38UCSC Ensembl
Outerchr5:207917..210686hg38UCSC Ensembl
Innerchr5:209230..209766hg19UCSC Ensembl
Outerchr5:208032..210801hg19UCSC Ensembl
Innerchr5:262230..262766hg18UCSC Ensembl
Outerchr5:261032..263801hg18UCSC Ensembl
Innerchr5:262230..262766hg17UCSC Ensembl
Outerchr5:261032..263801hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382770
hg192770
hg182770
hg172770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10644
Supporting Variants
SamplesNA12155
Known GenesCCDC127
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)nssv13928
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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