A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14216



Internal ID15841299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32603130..32604792hg38UCSC Ensembl
Outerchr6:32602752..32605201hg38UCSC Ensembl
Innerchr6:32570907..32572569hg19UCSC Ensembl
Outerchr6:32570529..32572978hg19UCSC Ensembl
Innerchr6:32678885..32680547hg18UCSC Ensembl
Outerchr6:32678507..32680956hg18UCSC Ensembl
Innerchr6:32678885..32680547hg17UCSC Ensembl
Outerchr6:32678507..32680956hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382450
hg192450
hg182450
hg172450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19007
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)nssv14216
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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