A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20350



Internal ID15485238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32291819..32300709hg38UCSC Ensembl
Outerchr16:32290729..32300927hg38UCSC Ensembl
Innerchr16:32303140..32312030hg19UCSC Ensembl
Outerchr16:32302050..32312248hg19UCSC Ensembl
Innerchr16:32210641..32219531hg18UCSC Ensembl
Outerchr16:32209551..32219749hg18UCSC Ensembl
Innerchr16:32210641..32219531hg17UCSC Ensembl
Outerchr16:32209551..32219749hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810199
hg1910199
hg1810199
hg1710199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA12802
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)nssv20350
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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