A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11954



Internal ID15487386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:272353..284367hg38UCSC Ensembl
Outerchr3:271826..285163hg38UCSC Ensembl
Innerchr3:314036..326050hg19UCSC Ensembl
Outerchr3:313509..326846hg19UCSC Ensembl
Innerchr3:289036..301050hg18UCSC Ensembl
Outerchr3:288509..301846hg18UCSC Ensembl
Innerchr3:289036..301050hg17UCSC Ensembl
Outerchr3:288509..301846hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3813338
hg1913338
hg1813338
hg1713338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10238
Supporting Variants
SamplesNA18517
Known GenesCHL1
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)nssv11954
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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