A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20719



Internal ID15837208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:85970578..85976109hg38UCSC Ensembl
Outerchr16:85970029..85976673hg38UCSC Ensembl
Innerchr16:86004184..86009715hg19UCSC Ensembl
Outerchr16:86003635..86010279hg19UCSC Ensembl
Innerchr16:84561685..84567216hg18UCSC Ensembl
Outerchr16:84561136..84567780hg18UCSC Ensembl
Innerchr16:84561685..84567216hg17UCSC Ensembl
Outerchr16:84561136..84567780hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg386645
hg196645
hg186645
hg176645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9467
Supporting Variants
SamplesNA18572
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)nssv20719
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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