A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24040



Internal ID15483555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32235445..32239662hg38UCSC Ensembl
Outerchr16:32235339..32239958hg38UCSC Ensembl
Innerchr16:32246766..32250983hg19UCSC Ensembl
Outerchr16:32246660..32251279hg19UCSC Ensembl
Innerchr16:32154267..32158484hg18UCSC Ensembl
Outerchr16:32154161..32158780hg18UCSC Ensembl
Innerchr16:32154267..32158484hg17UCSC Ensembl
Outerchr16:32154161..32158780hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384620
hg194620
hg184620
hg174620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA11830
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)nssv24040
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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