A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13540



Internal ID15831660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32647639..32652760hg38UCSC Ensembl
Outerchr6:32646145..32653196hg38UCSC Ensembl
Innerchr6:32615416..32620537hg19UCSC Ensembl
Outerchr6:32613922..32620973hg19UCSC Ensembl
Innerchr6:32723394..32728515hg18UCSC Ensembl
Outerchr6:32721900..32728951hg18UCSC Ensembl
Innerchr6:32723394..32728515hg17UCSC Ensembl
Outerchr6:32721900..32728951hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg387052
hg197052
hg187052
hg177052
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)nssv13540
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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