A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28899



Internal ID15486353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131183267..131184350hg38UCSC Ensembl
Outerchr2:131182507..131187389hg38UCSC Ensembl
Innerchr2:131940840..131941923hg19UCSC Ensembl
Outerchr2:131940080..131944962hg19UCSC Ensembl
Innerchr2:131657310..131658393hg18UCSC Ensembl
Outerchr2:131656550..131661432hg18UCSC Ensembl
Innerchr2:131774572..131775655hg17UCSC Ensembl
Outerchr2:131773812..131778694hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg384883
hg194883
hg184883
hg174883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18502
Known Genes
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)nssv28899
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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