A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14817



Internal ID15495502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69609238..69625322hg38UCSC Ensembl
Outerchr5:69608882..69626239hg38UCSC Ensembl
Innerchr5:68905065..68921149hg19UCSC Ensembl
Outerchr5:68904709..68922066hg19UCSC Ensembl
Innerchr5:68940821..68956905hg18UCSC Ensembl
Outerchr5:68940465..68957822hg18UCSC Ensembl
Innerchr5:68940821..68956905hg17UCSC Ensembl
Outerchr5:68940465..68957822hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817358
hg1917358
hg1817358
hg1717358
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)nssv14817
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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