A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26416



Internal ID15496851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20964573..20965106hg38UCSC Ensembl
Outerchr13:20963374..20969458hg38UCSC Ensembl
Innerchr13:21538712..21539245hg19UCSC Ensembl
Outerchr13:21537513..21543597hg19UCSC Ensembl
Innerchr13:20436712..20437245hg18UCSC Ensembl
Outerchr13:20435513..20441597hg18UCSC Ensembl
Innerchr13:20436712..20437245hg17UCSC Ensembl
Outerchr13:20435513..20441597hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg386085
hg196085
hg186085
hg176085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9059
Supporting Variants
SamplesNA19221
Known Genes
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)nssv26416
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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