A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27839



Internal ID15491996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46467256..46469817hg38UCSC Ensembl
Outerchr2:46466465..46470633hg38UCSC Ensembl
Innerchr2:46694395..46696956hg19UCSC Ensembl
Outerchr2:46693604..46697772hg19UCSC Ensembl
Innerchr2:46547899..46550460hg18UCSC Ensembl
Outerchr2:46547108..46551276hg18UCSC Ensembl
Innerchr2:46606046..46608607hg17UCSC Ensembl
Outerchr2:46605255..46609423hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384169
hg194169
hg184169
hg174169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9702
Supporting Variants
SamplesNA18942
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)nssv27839
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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