A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469889



Internal ID15187918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224252652..224446672hg38UCSC Ensembl
Innerchr1:224440354..224634374hg19UCSC Ensembl
Innerchr1:222506977..222700997hg18UCSC Ensembl
Innerchr1:221414985..221609005hg16UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38194021
hg19194021
hg18194021
hg16194021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674597
Samples
Known GenesCNIH4, MIR320B2, MIR4742, NVL, WDR26
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)nsv469889
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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