A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27514



Internal ID15835157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94863322..94867652hg38UCSC Ensembl
Outerchr2:94862726..94868592hg38UCSC Ensembl
Innerchr2:95529067..95533397hg19UCSC Ensembl
Outerchr2:95528471..95534337hg19UCSC Ensembl
Innerchr2:94892794..94897124hg18UCSC Ensembl
Outerchr2:94892198..94898064hg18UCSC Ensembl
Innerchr2:94950941..94955271hg17UCSC Ensembl
Outerchr2:94950345..94956211hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg385867
hg195867
hg185867
hg175867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10089
Supporting Variants
SamplesNA18537
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)nssv27514
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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