A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281



Internal ID15497922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70132418..70132421hg38UCSC Ensembl
Outerchr5:70131914..70132736hg38UCSC Ensembl
Innerchr5:69428245..69428248hg19UCSC Ensembl
Outerchr5:69427741..69428563hg19UCSC Ensembl
Innerchr5:69464001..69464004hg18UCSC Ensembl
Outerchr5:69463497..69464319hg18UCSC Ensembl
Innerchr5:69464001..69464004hg17UCSC Ensembl
Outerchr5:69463497..69464319hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38823
hg19823
hg18823
hg17823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19240
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)nssv14281
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