A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28826



Internal ID15842934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129981321..130009715hg38UCSC Ensembl
Outerchr2:129980969..130010521hg38UCSC Ensembl
Innerchr2:130738894..130767288hg19UCSC Ensembl
Outerchr2:130738542..130768094hg19UCSC Ensembl
Innerchr2:130455364..130483758hg18UCSC Ensembl
Outerchr2:130455012..130484564hg18UCSC Ensembl
Innerchr2:130455124..130483518hg17UCSC Ensembl
Outerchr2:130454772..130484324hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829553
hg1929553
hg1829553
hg1729553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA19173
Known GenesRAB6C
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)nssv28826
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