A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21004



Internal ID15828595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:33562116..33570788hg38UCSC Ensembl
Outerchr13:33528125..33571781hg38UCSC Ensembl
Innerchr13:34136253..34144925hg19UCSC Ensembl
Outerchr13:34102262..34145918hg19UCSC Ensembl
Innerchr13:33034253..33042925hg18UCSC Ensembl
Outerchr13:33000262..33043918hg18UCSC Ensembl
Innerchr13:33034253..33042925hg17UCSC Ensembl
Outerchr13:33000262..33043918hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3843657
hg1943657
hg1843657
hg1743657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9065
Supporting Variants
SamplesNA10839
Known GenesSTARD13
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)nssv21004
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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