A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673806



Internal ID15184628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22055049..22205066hg38UCSC Ensembl
Innerchr16:22066370..22216387hg19UCSC Ensembl
Innerchr16:21973871..22123888hg18UCSC Ensembl
Innerchr16:22032923..22182940hg16UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38150018
hg19150018
hg18150018
hg16150018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469628
Supporting Variants
Samples
Known GenesC16orf52, VWA3A
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)nssv1673806
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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