A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14562



Internal ID15485976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69724927..69830326hg38UCSC Ensembl
Outerchr5:69724556..69830696hg38UCSC Ensembl
Innerchr5:69020754..69126153hg19UCSC Ensembl
Outerchr5:69020383..69126523hg19UCSC Ensembl
Innerchr5:69056510..69161909hg18UCSC Ensembl
Outerchr5:69056139..69162279hg18UCSC Ensembl
Innerchr5:69056510..69161909hg17UCSC Ensembl
Outerchr5:69056139..69162279hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38106141
hg19106141
hg18106141
hg17106141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18502
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)nssv14562
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