A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8008



Internal ID15845920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168469078..168477768hg38UCSC Ensembl
Outerchr6:168869758..168878448hg19UCSC Ensembl
Outerchr6:168612607..168621297hg18UCSC Ensembl
Outerchr6:168688314..168697004hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388691
hg198691
hg188691
hg178691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14857
SamplesNA11830
Known GenesSMOC2
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)nsv8008
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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