A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25262



Internal ID15498005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33808268..33817181hg38UCSC Ensembl
Outerchr16:33807427..33817513hg38UCSC Ensembl
Innerchr16:33610735..33619648hg19UCSC Ensembl
Outerchr16:33609894..33619980hg19UCSC Ensembl
Innerchr16:33518236..33527149hg18UCSC Ensembl
Outerchr16:33517395..33527481hg18UCSC Ensembl
Innerchr16:33518236..33527149hg17UCSC Ensembl
Outerchr16:33517395..33527481hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810087
hg1910087
hg1810087
hg1710087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19240
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)nssv25262
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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