A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12697



Internal ID15483242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:209115..213238hg38UCSC Ensembl
Outerchr5:207917..214547hg38UCSC Ensembl
Innerchr5:209230..213353hg19UCSC Ensembl
Outerchr5:208032..214662hg19UCSC Ensembl
Innerchr5:262230..266353hg18UCSC Ensembl
Outerchr5:261032..267662hg18UCSC Ensembl
Innerchr5:262230..266353hg17UCSC Ensembl
Outerchr5:261032..267662hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386631
hg196631
hg186631
hg176631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10644
Supporting Variants
SamplesNA11830
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)nssv12697
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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