A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14956



Internal ID15835293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54050879..54113866hg38UCSC Ensembl
Outerchr6:54049693..54116282hg38UCSC Ensembl
Innerchr6:53915677..53978664hg19UCSC Ensembl
Outerchr6:53914491..53981080hg19UCSC Ensembl
Innerchr6:54023636..54086623hg18UCSC Ensembl
Outerchr6:54022450..54089039hg18UCSC Ensembl
Innerchr6:54023636..54086623hg17UCSC Ensembl
Outerchr6:54022450..54089039hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3866590
hg1966590
hg1866590
hg1766590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7901
Supporting Variants
SamplesNA18552
Known GenesMLIP
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)nssv14956
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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