A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14667



Internal ID15842123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32652857..32682465hg38UCSC Ensembl
Outerchr5:32652413..32683273hg38UCSC Ensembl
Innerchr5:32652963..32682571hg19UCSC Ensembl
Outerchr5:32652519..32683379hg19UCSC Ensembl
Innerchr5:32688720..32718328hg18UCSC Ensembl
Outerchr5:32688276..32719136hg18UCSC Ensembl
Innerchr5:32688720..32718328hg17UCSC Ensembl
Outerchr5:32688276..32719136hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3830861
hg1930861
hg1830861
hg1730861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10695
Supporting Variants
SamplesNA19132
Known Genes
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)nssv14667
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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