A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469677



Internal ID15187706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8101830..8306020hg38UCSC Ensembl
Innerchr19:8166714..8370904hg19UCSC Ensembl
Innerchr19:8072714..8276904hg18UCSC Ensembl
Innerchr19:8072714..8276904hg16UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38204191
hg19204191
hg18204191
hg16204191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672704, nssv1676598
Samples
Known GenesCD320, CERS4, FBN3
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)nsv469677
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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