A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11499



Internal ID15831259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:104094814..104315288hg38UCSC Ensembl
Outerchr3:104002928..104331289hg38UCSC Ensembl
Innerchr3:103813658..104034132hg19UCSC Ensembl
Outerchr3:103721772..104050133hg19UCSC Ensembl
Innerchr3:105296348..105516822hg18UCSC Ensembl
Outerchr3:105204462..105532823hg18UCSC Ensembl
Innerchr3:105296348..105516822hg17UCSC Ensembl
Outerchr3:105204462..105532823hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38328362
hg19328362
hg18328362
hg17328362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10297
Supporting Variants
SamplesNA12740
Known GenesMIR548A3
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)nssv11499
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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