A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1674325



Internal ID15185147
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 StatusS
Merged Variantsnsv469897
Supporting Variants
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)nssv1674325
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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