A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20062



Internal ID15838951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20239333..20285452hg38UCSC Ensembl
Outerchr15:20238377..20285886hg38UCSC Ensembl
Innerchr15:20444586..20490705hg19UCSC Ensembl
Outerchr15:20443630..20491139hg19UCSC Ensembl
Innerchr15:18704600..18750719hg18UCSC Ensembl
Outerchr15:18703644..18751153hg18UCSC Ensembl
Innerchr15:18704600..18750719hg17UCSC Ensembl
Outerchr15:18703644..18751153hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3847510
hg1947510
hg1847510
hg1747510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9179
Supporting Variants
SamplesNA18942
Known GenesCHEK2P2
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)nssv20062
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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