A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15912



Internal ID15832928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54064470..54069014hg38UCSC Ensembl
Outerchr6:54063816..54070241hg38UCSC Ensembl
Innerchr6:53929268..53933812hg19UCSC Ensembl
Outerchr6:53928614..53935039hg19UCSC Ensembl
Innerchr6:54037227..54041771hg18UCSC Ensembl
Outerchr6:54036573..54042998hg18UCSC Ensembl
Innerchr6:54037227..54041771hg17UCSC Ensembl
Outerchr6:54036573..54042998hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386426
hg196426
hg186426
hg176426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7901
Supporting Variants
SamplesNA18502
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)nssv15912
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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