A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27967



Internal ID15496965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32286523..32294641hg38UCSC Ensembl
Outerchr16:32281859..32295139hg38UCSC Ensembl
Innerchr16:32297844..32305962hg19UCSC Ensembl
Outerchr16:32293180..32306460hg19UCSC Ensembl
Innerchr16:32205345..32213463hg18UCSC Ensembl
Outerchr16:32200681..32213961hg18UCSC Ensembl
Innerchr16:32205345..32213463hg17UCSC Ensembl
Outerchr16:32200681..32213961hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813281
hg1913281
hg1813281
hg1713281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19221
Known GenesLOC390705
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)nssv27967
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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