A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469897



Internal ID15187926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9674501..9870520hg38UCSC Ensembl
Innerchr18:9674498..9870517hg19UCSC Ensembl
Innerchr18:9664498..9860517hg18UCSC Ensembl
Innerchr18:9664498..9860517hg16UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38196020
hg19196020
hg18196020
hg16196020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674325, nssv1672207, nssv1676415
Samples
Known GenesRAB31
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)nsv469897
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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