A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27412



Internal ID15840847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129947478..129977193hg38UCSC Ensembl
Outerchr2:129946827..129977754hg38UCSC Ensembl
Innerchr2:130705051..130734766hg19UCSC Ensembl
Outerchr2:130704400..130735327hg19UCSC Ensembl
Innerchr2:130421521..130451236hg18UCSC Ensembl
Outerchr2:130420870..130451797hg18UCSC Ensembl
Innerchr2:130421281..130450996hg17UCSC Ensembl
Outerchr2:130420630..130451557hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3830928
hg1930928
hg1830928
hg1730928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18980
Known GenesRAB6C-AS1
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)nssv27412
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