A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14545



Internal ID15840568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78400242..78417836hg38UCSC Ensembl
Outerchr6:78399657..78418503hg38UCSC Ensembl
Innerchr6:79109959..79127553hg19UCSC Ensembl
Outerchr6:79109374..79128220hg19UCSC Ensembl
Innerchr6:79166678..79184272hg18UCSC Ensembl
Outerchr6:79166093..79184939hg18UCSC Ensembl
Innerchr6:79166678..79184272hg17UCSC Ensembl
Outerchr6:79166093..79184939hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3818847
hg1918847
hg1818847
hg1718847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7932
Supporting Variants
SamplesNA18980
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)nssv14545
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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