A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8000



Internal ID15845912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167167190..167178533hg38UCSC Ensembl
Outerchr6:167580678..167592021hg19UCSC Ensembl
Outerchr6:167500668..167512011hg18UCSC Ensembl
Outerchr6:167551089..167562432hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811344
hg1911344
hg1811344
hg1711344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17820
SamplesNA19221
Known GenesTCP10L2
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)nsv8000
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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