A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27616



Internal ID15830284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94899535..94908960hg38UCSC Ensembl
Outerchr2:94896733..94912453hg38UCSC Ensembl
Innerchr2:95565280..95574705hg19UCSC Ensembl
Outerchr2:95562478..95578198hg19UCSC Ensembl
Innerchr2:94929007..94938432hg18UCSC Ensembl
Outerchr2:94926205..94941925hg18UCSC Ensembl
Innerchr2:94987154..94996579hg17UCSC Ensembl
Outerchr2:94984352..95000072hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3815721
hg1915721
hg1815721
hg1715721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10090
Supporting Variants
SamplesNA11830
Known GenesLOC442028
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)nssv27616
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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