A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28888



Internal ID15498139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131358122..131366127hg38UCSC Ensembl
Outerchr2:131357665..131366796hg38UCSC Ensembl
Innerchr2:132115695..132123700hg19UCSC Ensembl
Outerchr2:132115238..132124369hg19UCSC Ensembl
Innerchr2:131832165..131840170hg18UCSC Ensembl
Outerchr2:131831708..131840839hg18UCSC Ensembl
Innerchr2:131949427..131957432hg17UCSC Ensembl
Outerchr2:131948970..131958101hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg389132
hg199132
hg189132
hg179132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19240
Known GenesWTH3DI
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)nssv28888
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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