A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1672151



Internal ID15182973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21078782..21261951hg38UCSC Ensembl
Innerchr22:21433071..21616240hg19UCSC Ensembl
Innerchr22:19763071..19946240hg18UCSC Ensembl
Innerchr22:19757625..19940794hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38183170
hg19183170
hg18183170
hg16183170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469751
Supporting Variants
Samples
Known GenesBCRP2, FAM230B
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nssv1672151
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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