A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24359



Internal ID15829818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762591..55768157hg38UCSC Ensembl
Outerchr16:55762006..55769627hg38UCSC Ensembl
Innerchr16:55796503..55802069hg19UCSC Ensembl
Outerchr16:55795918..55803539hg19UCSC Ensembl
Innerchr16:54354004..54359570hg18UCSC Ensembl
Outerchr16:54353419..54361040hg18UCSC Ensembl
Innerchr16:54354004..54359570hg17UCSC Ensembl
Outerchr16:54353419..54361040hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg387622
hg197622
hg187622
hg177622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9445
Supporting Variants
SamplesNA11830
Known GenesCES1P1
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)nssv24359
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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