A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13075



Internal ID15494180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:209115..214547hg38UCSC Ensembl
Outerchr5:207917..215159hg38UCSC Ensembl
Innerchr5:209230..214662hg19UCSC Ensembl
Outerchr5:208032..215274hg19UCSC Ensembl
Innerchr5:262230..267662hg18UCSC Ensembl
Outerchr5:261032..268274hg18UCSC Ensembl
Innerchr5:262230..267662hg17UCSC Ensembl
Outerchr5:261032..268274hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387243
hg197243
hg187243
hg177243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10644
Supporting Variants
SamplesNA18980
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)nssv13075
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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