A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13480



Internal ID15831656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32597409..32604141hg38UCSC Ensembl
Outerchr6:32596857..32604792hg38UCSC Ensembl
Innerchr6:32565186..32571918hg19UCSC Ensembl
Outerchr6:32564634..32572569hg19UCSC Ensembl
Innerchr6:32673164..32679896hg18UCSC Ensembl
Outerchr6:32672612..32680547hg18UCSC Ensembl
Innerchr6:32673164..32679896hg17UCSC Ensembl
Outerchr6:32672612..32680547hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg387936
hg197936
hg187936
hg177936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12802
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)nssv13480
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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