A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469560



Internal ID15187589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18076011..18213970hg38UCSC Ensembl
Innerchr22:18558777..18696737hg19UCSC Ensembl
Innerchr22:16938777..17076737hg18UCSC Ensembl
Innerchr22:16933331..17071291hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38137960
hg19137961
hg18137961
hg16137961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676077, nssv1675024, nssv1673977, nssv1673294, nssv1675360, nssv1676665, nssv1675467, nssv1672545, nssv1675861, nssv1672178, nssv1674104, nssv1675115, nssv1675760, nssv1673852, nssv1675302, nssv1672885, nssv1676568, nssv1673336, nssv1675369, nssv1673546, nssv1674810, nssv1674417, nssv1675615, nssv1674164, nssv1672997, nssv1676341, nssv1675963, nssv1674530, nssv1674058, nssv1675451, nssv1676410, nssv1674393, nssv1675758, nssv1676135, nssv1674111, nssv1676374
Samples
Known GenesPEX26, TUBA8, USP18
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)nsv469560
Frequency
Sample Size265
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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