A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15184



Internal ID15828557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168316588..168317864hg38UCSC Ensembl
Outerchr6:168316027..168318385hg38UCSC Ensembl
Innerchr6:168717268..168718544hg19UCSC Ensembl
Outerchr6:168716707..168719065hg19UCSC Ensembl
Innerchr6:168460117..168461393hg18UCSC Ensembl
Outerchr6:168459556..168461914hg18UCSC Ensembl
Innerchr6:168535824..168537100hg17UCSC Ensembl
Outerchr6:168535263..168537621hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382359
hg192359
hg182359
hg172359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8007
Supporting Variants
SamplesNA10839
Known GenesDACT2
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)nssv15184
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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