A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292



Internal ID15486152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:788591..837445hg38UCSC Ensembl
Outerchr5:787505..838124hg38UCSC Ensembl
Innerchr5:788706..837560hg19UCSC Ensembl
Outerchr5:787620..838239hg19UCSC Ensembl
Innerchr5:841706..890560hg18UCSC Ensembl
Outerchr5:840620..891239hg18UCSC Ensembl
Innerchr5:841706..890560hg17UCSC Ensembl
Outerchr5:840620..891239hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3850620
hg1950620
hg1850620
hg1750620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18502
Known GenesZDHHC11
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)nssv14292
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