A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13336



Internal ID15488795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70103139..70181874hg38UCSC Ensembl
Outerchr5:70101587..70184098hg38UCSC Ensembl
Innerchr5:69398966..69477701hg19UCSC Ensembl
Outerchr5:69397414..69479925hg19UCSC Ensembl
Innerchr5:69434722..69513457hg18UCSC Ensembl
Outerchr5:69433170..69515681hg18UCSC Ensembl
Innerchr5:69434722..69513457hg17UCSC Ensembl
Outerchr5:69433170..69515681hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3882512
hg1982512
hg1882512
hg1782512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesSMA4
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)nssv13336
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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