A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469814



Internal ID15187843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37777286..37950154hg38UCSC Ensembl
Innerchr9:37777283..37950151hg19UCSC Ensembl
Innerchr9:37767283..37940151hg18UCSC Ensembl
Innerchr9:37767283..37940151hg16UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38172869
hg19172869
hg18172869
hg16172869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675381, nssv1676667
Samples
Known GenesDCAF10, EXOSC3, SHB, SLC25A51, TRMT10B
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)nsv469814
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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