A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268



Internal ID15489672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881914..29956425hg38UCSC Ensembl
Outerchr6:29875077..29956982hg38UCSC Ensembl
Innerchr6:29849691..29924202hg19UCSC Ensembl
Outerchr6:29842854..29924759hg19UCSC Ensembl
Innerchr6:29957670..30032181hg18UCSC Ensembl
Outerchr6:29950833..30032738hg18UCSC Ensembl
Innerchr6:29957670..30032181hg17UCSC Ensembl
Outerchr6:29950833..30032738hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3881906
hg1981906
hg1881906
hg1781906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18564
Known GenesHCG4B, HLA-A, HLA-H
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)nssv14268
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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