A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22382



Internal ID15480808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33683348..33688640hg38UCSC Ensembl
Outerchr16:33682094..33689256hg38UCSC Ensembl
Innerchr16:33485815..33491107hg19UCSC Ensembl
Outerchr16:33484561..33491723hg19UCSC Ensembl
Innerchr16:33393316..33398608hg18UCSC Ensembl
Outerchr16:33392062..33399224hg18UCSC Ensembl
Innerchr16:33393316..33398608hg17UCSC Ensembl
Outerchr16:33392062..33399224hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387163
hg197163
hg187163
hg177163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07029
Known GenesRNU6-76P
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)nssv22382
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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