A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293



Internal ID15486963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:691510..746231hg38UCSC Ensembl
Outerchr5:690221..746699hg38UCSC Ensembl
Innerchr5:691625..746346hg19UCSC Ensembl
Outerchr5:690336..746814hg19UCSC Ensembl
Innerchr5:744625..799346hg18UCSC Ensembl
Outerchr5:743336..799814hg18UCSC Ensembl
Innerchr5:744625..799346hg17UCSC Ensembl
Outerchr5:743336..799814hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3856479
hg1956479
hg1856479
hg1756479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18504
Known GenesTPPP
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)nssv14293
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