A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469605



Internal ID15534320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:66920109..67063110hg38UCSC Ensembl
Innerchr9:39812711..39974370hg19UCSC Ensembl
Innerchr9:39802711..39964370hg18UCSC Ensembl
Innerchr9:39835766..39978767hg16UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38143002
hg19161660
hg18161660
hg16143002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673900
Samples
Known GenesFAM74A1, SPATA31A1, SPATA31A2
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)nsv469605
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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