A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12646



Internal ID15488882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:209115..215780hg38UCSC Ensembl
Outerchr5:207917..216397hg38UCSC Ensembl
Innerchr5:209230..215895hg19UCSC Ensembl
Outerchr5:208032..216512hg19UCSC Ensembl
Innerchr5:262230..268895hg18UCSC Ensembl
Outerchr5:261032..269512hg18UCSC Ensembl
Innerchr5:262230..268895hg17UCSC Ensembl
Outerchr5:261032..269512hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg388481
hg198481
hg188481
hg178481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10644
Supporting Variants
SamplesNA18552
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)nssv12646
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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