A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29208



Internal ID15491295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131331454..131335089hg38UCSC Ensembl
Outerchr2:131330705..131335684hg38UCSC Ensembl
Innerchr2:132089027..132092662hg19UCSC Ensembl
Outerchr2:132088278..132093257hg19UCSC Ensembl
Innerchr2:131805497..131809132hg18UCSC Ensembl
Outerchr2:131804748..131809727hg18UCSC Ensembl
Innerchr2:131922759..131926394hg17UCSC Ensembl
Outerchr2:131922010..131926989hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg384980
hg194980
hg184980
hg174980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18860
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)nssv29208
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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