A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20659



Internal ID15490603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72051622..72076034hg38UCSC Ensembl
Outerchr16:72050862..72076727hg38UCSC Ensembl
Innerchr16:72085521..72109933hg19UCSC Ensembl
Outerchr16:72084761..72110626hg19UCSC Ensembl
Innerchr16:70643022..70667434hg18UCSC Ensembl
Outerchr16:70642262..70668127hg18UCSC Ensembl
Innerchr16:70643022..70667434hg17UCSC Ensembl
Outerchr16:70642262..70668127hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3825866
hg1925866
hg1825866
hg1725866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9456
Supporting Variants
SamplesNA18572
Known GenesHP, HPR
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)nssv20659
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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