A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469669



Internal ID15187698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47987500..48132844hg38UCSC Ensembl
Innerchr10:49195537..49340887hg19UCSC Ensembl
Innerchr10:48865543..49010893hg18UCSC Ensembl
Innerchr10:48540138..48685490hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38145345
hg19145351
hg18145351
hg16145353
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674953, nssv1676121, nssv1673513, nssv1673028, nssv1673244
Samples
Known GenesCTGLF12P, FAM25C, FAM25G
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)nsv469669
Frequency
Sample Size265
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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