A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26294



Internal ID15487640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32267147..32278592hg38UCSC Ensembl
Outerchr16:32264991..32279542hg38UCSC Ensembl
Innerchr16:32278468..32289913hg19UCSC Ensembl
Outerchr16:32276312..32290863hg19UCSC Ensembl
Innerchr16:32185969..32197414hg18UCSC Ensembl
Outerchr16:32183813..32198364hg18UCSC Ensembl
Innerchr16:32185969..32197414hg17UCSC Ensembl
Outerchr16:32183813..32198364hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814552
hg1914552
hg1814552
hg1714552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18517
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)nssv26294
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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