A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27415



Internal ID15842661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130024797..130027633hg38UCSC Ensembl
Outerchr2:130024131..130028215hg38UCSC Ensembl
Innerchr2:130782370..130785206hg19UCSC Ensembl
Outerchr2:130781704..130785788hg19UCSC Ensembl
Innerchr2:130498840..130501676hg18UCSC Ensembl
Outerchr2:130498174..130502258hg18UCSC Ensembl
Innerchr2:130498600..130501436hg17UCSC Ensembl
Outerchr2:130497934..130502018hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg384085
hg194085
hg184085
hg174085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10158
Supporting Variants
SamplesNA19144
Known GenesFAR2P1
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)nssv27415
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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