A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13299



Internal ID15484695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:679199..846379hg38UCSC Ensembl
Outerchr5:678070..846963hg38UCSC Ensembl
Innerchr5:679314..846494hg19UCSC Ensembl
Outerchr5:678185..847078hg19UCSC Ensembl
Innerchr5:732314..899494hg18UCSC Ensembl
Outerchr5:731185..900078hg18UCSC Ensembl
Innerchr5:732314..899494hg17UCSC Ensembl
Outerchr5:731185..900078hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38168894
hg19168894
hg18168894
hg17168894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA12740
Known GenesTPPP, ZDHHC11
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)nssv13299
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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