A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20650



Internal ID15485248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70113076..70154511hg38UCSC Ensembl
Outerchr16:70112672..70155241hg38UCSC Ensembl
Innerchr16:70146979..70188414hg19UCSC Ensembl
Outerchr16:70146575..70189144hg19UCSC Ensembl
Innerchr16:68704480..68745915hg18UCSC Ensembl
Outerchr16:68704076..68746645hg18UCSC Ensembl
Innerchr16:68704480..68745915hg17UCSC Ensembl
Outerchr16:68704076..68746645hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3842570
hg1942570
hg1842570
hg1742570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9455
Supporting Variants
SamplesNA12802
Known GenesPDPR
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)nssv20650
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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