A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14877



Internal ID15495538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69713564..69841979hg38UCSC Ensembl
Outerchr5:69713272..69842146hg38UCSC Ensembl
Innerchr5:69009391..69137806hg19UCSC Ensembl
Outerchr5:69009099..69137973hg19UCSC Ensembl
Innerchr5:69045147..69173562hg18UCSC Ensembl
Outerchr5:69044855..69173729hg18UCSC Ensembl
Innerchr5:69045147..69173562hg17UCSC Ensembl
Outerchr5:69044855..69173729hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38128875
hg19128875
hg18128875
hg17128875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
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)nssv14877
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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