A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27278



Internal ID15832092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131683882..131729943hg38UCSC Ensembl
Outerchr2:131682567..131730310hg38UCSC Ensembl
Innerchr2:132441455..132487516hg19UCSC Ensembl
Outerchr2:132440140..132487883hg19UCSC Ensembl
Innerchr2:132157925..132203986hg18UCSC Ensembl
Outerchr2:132156610..132204353hg18UCSC Ensembl
Innerchr2:132275187..132321248hg17UCSC Ensembl
Outerchr2:132273872..132321615hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3847744
hg1947744
hg1847744
hg1747744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA12872
Known GenesC2orf27A
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)nssv27278
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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