A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13400



Internal ID15490699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70381935..70382104hg38UCSC Ensembl
Outerchr5:70381877..70382723hg38UCSC Ensembl
Innerchr5:69677762..69677931hg19UCSC Ensembl
Outerchr5:69677704..69678550hg19UCSC Ensembl
Innerchr5:69713518..69713687hg18UCSC Ensembl
Outerchr5:69713460..69714306hg18UCSC Ensembl
Innerchr5:69713518..69713687hg17UCSC Ensembl
Outerchr5:69713460..69714306hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38847
hg19847
hg18847
hg17847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18853
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)nssv13400
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer