A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7893



Internal ID15845805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41731881..41736452hg38UCSC Ensembl
Outerchr6:41699619..41704190hg19UCSC Ensembl
Outerchr6:41807597..41812168hg18UCSC Ensembl
Outerchr6:41807597..41812168hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384572
hg194572
hg184572
hg174572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13301
SamplesNA12872
Known GenesTFEB
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)nsv7893
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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