A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15241



Internal ID15844488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32481550..32605201hg38UCSC Ensembl
Outerchr6:32481193..32606887hg38UCSC Ensembl
Innerchr6:32449327..32572978hg19UCSC Ensembl
Outerchr6:32448970..32574664hg19UCSC Ensembl
Innerchr6:32557305..32680956hg18UCSC Ensembl
Outerchr6:32556948..32682642hg18UCSC Ensembl
Innerchr6:32557305..32680956hg17UCSC Ensembl
Outerchr6:32556948..32682642hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38125695
hg19125695
hg18125695
hg17125695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19240
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
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)nssv15241
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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