A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27413



Internal ID15841506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87050456..87117600hg38UCSC Ensembl
Outerchr2:87049929..87118818hg38UCSC Ensembl
Innerchr2:87277579..87344723hg19UCSC Ensembl
Outerchr2:87277052..87345941hg19UCSC Ensembl
Innerchr2:87131090..87198234hg18UCSC Ensembl
Outerchr2:87130563..87199452hg18UCSC Ensembl
Innerchr2:87189237..87256381hg17UCSC Ensembl
Outerchr2:87188710..87257599hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3868890
hg1968890
hg1868890
hg1768890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10065
Supporting Variants
SamplesNA19007
Known GenesLOC285074
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)nssv27413
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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