A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29036



Internal ID15496250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130762992..130763938hg38UCSC Ensembl
Outerchr2:130762563..130766308hg38UCSC Ensembl
Innerchr2:131520565..131521511hg19UCSC Ensembl
Outerchr2:131520136..131523881hg19UCSC Ensembl
Innerchr2:131237035..131237981hg18UCSC Ensembl
Outerchr2:131236606..131240351hg18UCSC Ensembl
Innerchr2:131354304..131355250hg17UCSC Ensembl
Outerchr2:131353875..131357620hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg383746
hg193746
hg183746
hg173746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10175
Supporting Variants
SamplesNA19173
Known GenesAMER3
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)nssv29036
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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