A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12875



Internal ID15482310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69948385..69949428hg38UCSC Ensembl
Outerchr5:69947655..69949918hg38UCSC Ensembl
Innerchr5:69244212..69245255hg19UCSC Ensembl
Outerchr5:69243482..69245745hg19UCSC Ensembl
Innerchr5:69279968..69281011hg18UCSC Ensembl
Outerchr5:69279238..69281501hg18UCSC Ensembl
Innerchr5:69279968..69281011hg17UCSC Ensembl
Outerchr5:69279238..69281501hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382264
hg192264
hg182264
hg172264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
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)nssv12875
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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