A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469801



Internal ID15187830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39200168..39394631hg38UCSC Ensembl
Innerchr9:39200165..39394628hg19UCSC Ensembl
Innerchr9:39190165..39384628hg18UCSC Ensembl
Innerchr9:39190165..39384628hg16UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38194464
hg19194464
hg18194464
hg16194464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673000, nssv1674932, nssv1673902
Samples
Known GenesCNTNAP3, 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)nsv469801
Frequency
Sample Size265
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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